TE

Basic genetics
26
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bioccfc26.e

Eye colour, like many other human characteristics,

is the result of interactions of several genes.

Links to prior knowledge Chapter preview

Why are we similar? Why are we different?
These are two fundamental questions 26.1 What is genetics?
concerned with the study of genetics. 26.2 DNA, chromosomes and
We will begin this chapter with a brief genes
review of the genetic material, DNA. What
you have learned about the changes of
26.3 Mendel’s laws of
chromosomes during meiosis (Section 12.3)
inheritance
will help you understand the inheritance of 26.4 Inheritance in humans
human characteristics.
26.5 Variations in characteristics
 26 Basic genetics

Twins with different skin colours

Lucy has pale skin and Maria has darker skin. They do not look much alike. You might find it
hard to believe that they are twins but genetics can help explain this.

Many of our body characteristics, including skin colour, are controlled by genes. Different
genes control different characteristics. Each gene may have varying forms which can
result in variations in characteristics.

Lucy and Maria’s mother is half Jamaican while their father is white. The girls are non-
identical twins. Each of them started out as a separate fertilized egg, inheriting a different
combination of genes from their mother and their father.

Twins with different skin colours



Think about …
1. What is a gene?
2. How are genes passed from one generation to the next?
3. Apart from genes, what other factors can affect our body characteristics? Answer

(Refer to p.A1 for answers.)

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26 Basic genetics

Learning objective 26.1 What is genetics?

Know what genetics is
Genetics is the study of heredity and variations in organisms.
Heredity is the passing on of characteristics from one generation
Video
DNA—the book of organisms to the next generation. Variations refer to the
of life differences in a particular characteristic among individuals of a
e-aristo.hk/r/
bioccuv2601.e species.

Figure 26.1 Children look like their Figure 26.2 Each individual is
parents because of characteristics unique. We vary in skin colour,
they inherit from each parent. hair colour, height, etc.

Key point
Genetics is the study of heredity and variations in organisms.

26.2 DNA, chromosomes and

Learning objective genes
Describe the structural and
functional relationships of DNA, Characteristics are passed from parents to offspring through genes.
chromosomes and genes
What are genes? How do genes work? To answer these questions,
we must first understand the structure of DNA.

A. DNA as a store of genetic information

Link it
Deoxyribonucleic acid (DNA) is the chemical that stores the genetic
Recall from Chapter 2 that there information in a cell. DNA is usually found in the nucleus. Each
are two types of nucleic acids:
DNA and RNA. You will learn more
DNA molecule wraps around special proteins and coils up to form
about the structure and functions chromatin. When a cell is going to divide, the chromatin condenses
of RNA in Chapter 27. to form a chromosome (Figure 26.3 on the next page).

genetics 遺傳學 gene 基因 chromosome 染色體

heredity 遺傳 deoxyribonucleic acid 脫氧核糖核酸 26- 3
variation 變異 chromatin 染色質
 26 Basic genetics

nucleus
Remember this DNA

Just before a cell divides, the

chromosomes replicate and cell
condense into compact structures
that can be seen with a light
microscope. Each replicated
chromosome consists of two
chromosome
identical ‘sister’chromatids held
together by a centromere.

protein

chromatids

3D model Figure 26.3 Each DNA molecule wraps around proteins and tightly coils
to form a chromosome.
DNA
e-aristo.hk/r/
biocc3dm2601.e
Structure of DNA
In 1953, James Watson (1928–) and Francis Crick (1916–2004)
proposed a three-dimensional model for the structure of DNA:
A DNA molecule consists of two polynucleotide chains (i.e. two
DNA strands). The two strands run in opposite directions and
are twisted together to form a double helix.
The backbone of the DNA molecule is made up of the sugar
(deoxyribose) and phosphate groups of nucleotides.
Attached to the sugar of each nucleotide is one of four
Figure 26.4 James Watson nitrogenous bases: adenine (A), thymine (T), guanine (G) and
(left) and Francis Crick (right) cytosine (C). The bases on one strand pair up with those on the
other strand through hydrogen bonds. A always pairs with T,
and G pairs with C. This is called complementary base pairing.

2 nm

sugar-phosphate
Remember this a nucleotide
backbone
DNA structure may be likened to a base
ladder. Alternating sugar and
phosphate groups form the two
sides of the ladder, and the pairs
of bases respresent the rungs.
Every molecule of DNA has the
same form. The differences a complete
between one DNA molecule and turn with 10
another are the sequence of the base pairs
base pair
bases and the total number of
base pairs in each molecule.

hydrogen bond

Figure 26.5 Structure of DNA AR

adenine 腺嘌呤 cytosine 胞嘧啶

26- 4 thymine 胸腺嘧啶 complementary base pairing 互補鹼基配對
guanine 鳥嘌呤
 26 Basic genetics

The structure of DNA makes it an ideal material for the storage of

genetic information:

Genetic information is stored in the sequence of the nucleotide

bases in DNA. Since DNA is a large molecule made up of a
huge number of nucleotides, it can store a very large amount of
genetic information.

DNA molecule is stable. The sugar of one nucleotide and the

phosphate group of the next are joined together by strong
covalent bonds, forming a strong sugar-phosphate backbone.
The hydrogen bonds between the bases of the two strands of
DNA hold the two strands together and stabilize the helical
structure.
Link it
Complementary base pairing enables DNA to replicate (make
DNA replication occurs during an exact copy of itself) every time a cell divides, so that genetic
interphase of the cell cycle (see
Chapter 12).
information is passed on to new cells. The process of DNA
replication is shown in Figure 26.6.

 A segment of DNA before replication is shown.  The hydrogen bonds between the bases
The hydrogen bonds between the bases hold break. The two DNA strands separate.
the two DNA strands together. Each DNA strand acts as a template.
hydrogen bond

 Free nucleotides bind to the DNA templates by  Two identical DNA molecules are formed,
base pairing. Nucleotides are joined together with each of which consists of one original strand
the help of the enzyme DNA polymerase. and one newly synthesized strand.
free DNA nucleotides new strands

template strands original strands

Figure 26.6 DNA replication

26- 5
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26 Basic genetics

Discovering science
Structure of DNA
James Watson and Francis Crick are famous for discovering the structure of
DNA, but other scientists also contributed to this discovery.
In 1949, Erwin Chargaff (1905–2002) found that the DNA of different species
of organisms differed in the proportions of bases. The percentage of adenine
(A) was very similar to the percentage of thymine (T). The same applied to
guanine (G) and cytosine (C).

Relative proportions of bases in DNA (%)

Organism
A T G C
Human 29.3 30.0 20.7 20.0

Yeast 31.3 32.9 18.7 17.1

Maize 26.8 27.2 22.8 23.2

Grasshopper 29.3 29.3 20.5 20.7

Some data obtained by Erwin Chargaff (1952)



Between 1951 and 1953, Rosalind Franklin (1920–1958) and Maurice Wilkins
(1916–2004) studied the structure of DNA using a technique called X-ray
diffraction. They produced excellent X-ray diffraction images of DNA which
could be used to determine the three-dimensional shape of DNA molecules.
In 1953, Watson and Crick combined the results of the X-ray diffraction
analysis with the data obtained by Chargaff, and proposed the double
helix model for DNA. Watson, Crick and Wilkins were awarded the Nobel
Prize in 1962 to recognize their contributions in discovering the structure
of DNA. Franklin died of cancer in 1958 and was unable to share the award
of the Nobel Prize.

Questions for discussion

1. Based on your knowledge of DNA, explain the relative proportions of bases

in each species?
2. How do the relative proportions of bases in different organisms suggest
that they may be the codes for genetic information?
3. What personal attributes helped Watson and Crick build the DNA model?

STEM activity 26.1

Making a DNA model
In solving the DNA structure, Watson and Crick used
metal plates and rods to make physical models. You can
also make your own model of DNA using common
household materials or by 3D-printing.

e-aristo.hk/r/bioccstem.e A model of DNA



X-ray diffraction X 射線衍射

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26 Basic genetics

Practical 26.1 Extraction of DNA from onion cells

In this practical, you will learn the steps to extract DNA from onion Video
cells. Since DNA is found inside the nucleus of the onion cell, the cell Practical 26.1
wall, the cell membrane and the nuclear membrane all need to be e-aristo.hk/r/
bioccpv2601.e
broken down in order to free the DNA.
Pure DNA is colourless. The DNA extracted in this practical is crude. It
contains impurities such as proteins that make it visible to the naked
eye.

Procedure
1. Prepare 100 cm3 extraction solution by mixing liquid detergent, Caution
table salt and distilled water in a beaker. • Wear disposable gloves.
2. Peel an onion and cut it into small pieces with a knife. • A knife is sharp. Handle it
with care.
3. Add onion pieces to the extraction solution. Stir with a glass rod. • Wear safety googles and
o o heat-resistant gloves
4. Place the beaker in a water bath at 50 C to 60 C for ten minutes. when handling hot water.
5. Transfer the beaker to an ice bath and allow the mixture to cool • Ethanol is flammable. Use
down for five minutes. it in well-ventilated areas,
away from flames.
6. Pour the mixture into a blender and blend it for ten seconds.
7. Filter the mixture with three layers of muslin cloth to obtain the
filtrate.
8. Transfer 10 cm3 of the filtrate into a boiling tube.
9. Slowly pour 10 cm3 of ice-cold ethanol down the inside of the
boiling tube to form a layer on top of the filtrate. Place the boiling
tube in the ice bath and leave it undisturbed for three minutes.
10. Observe any changes that take place at the interface between the
ethanol and the filtrate.
11. Dip a wooden stick into the interface and gently rotate the stick.
This will wind the DNA around the stick. Observe and record the
appearance of the DNA as the stick is drawn out of the tube.

wooden stick

ethanol

DNA extracted from onion cells ethanol

DNA
filtrate
filtrate

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 26 Basic genetics

B. What are genes?

Link it
A gene is a short length of DNA in a chromosome. The sequence
You will learn about the nature of
of bases in the DNA of a gene provides the genetic code that
the genetic code in Chapter 27.
determines the sequence of amino acids in a particular polypeptide.
We can say that a gene codes for a polypeptide.

Polypeptides make up proteins. These can be:

structural proteins that build body parts (e.g. collagen).

functional proteins (e.g. enzymes and hormones) that regulate

metabolism.
Remember this
Genes are the basic unit of heredity. By controlling what proteins
Some human traits are visible, are made, genes determine the body characteristics (or traits) of
such as eye colour. Others are not
visible, such as blood group. an organism. A trait may be controlled by one or more genes.

The position of a particular gene on a chromosome is called a gene

locus (plural: loci). A gene may have two or more alternative forms
Remember this
called alleles. The alleles of any particular gene lie at the same gene
The alleles for a gene may differ locus on a pair of homologous chromosomes (Figure 26.7).
from each other by only one or a
few bases.
a pair of homologous chromosomes

Both chromosomes carry the

same allele of the gene at this
locus; the individual is
loci of genes which homozygous for this gene
control different
characteristics Each chromosome carries a
different allele of the gene at
this locus; the individual is
heterozygous for this gene

paternal chromosome maternal chromosome

Figure 26.7 Body cells are diploid; we have pairs of genes (or alleles),
on pairs of homologous chromosomes.

trait 特徵
26- 8 gene locus 基因位點
allele 等位基因
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26 Basic genetics

If an individual has the same allele in both members of a

chromosome pair, the individual is said to be homozygous for the
gene. If the two alleles are different, the individual is said to be
heterozygous for the gene.

Key point
1. Chromosomes are made up of DNA and proteins.
2. A DNA molecule consists of two polynucleotide chains that run in
opposite directions and are twisted together to form a double helix. The
two polynucleotide chains are held together by hydrogen bonds between
the bases. A always pairs with T, and G with C.
3. A gene is a short length of DNA in a chromosome. Genes determine the
body characteristics of an organism by controlling what proteins are
made.

Checkpoint
1. Which of the following diagrams correctly represents a DNA base
pair?
A. B.

T T
P A P P C P

C. D.
P C G P P A A P

2. A DNA molecule is known to contain 20% cytosine (C). What is the

percentage of adenine (A) in this DNA molecule?
A. 20%
B. 30%
C. 40%
D. 60%

homozygous 純合的
heterozygous 雜合的 26- 9
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26 Basic genetics

Learning objective 26.3 Mendel’s laws of inheritance

• Understand Mendel’s law of
segregation and law of Gregor Mendel (1822–1884) (Figure 26.8) was
independent assortment the first person to study inheritance in a
• Apply Mendel’s laws to solve
scientific way. In the 1860s, Mendel conducted
genetic problems
breeding experiments on garden pea plants
and studied how characteristics are passed
Simulation from one generation to the next. He chose pea
Inheritance of plants because they had easily observable
characterisitics
e-aristo.hk/r/
characteristics (Figure 26.9), grew fast and Figure 26.8 Gregor
bioccsim2601.e were easy to handle. Mendel

Seed shape Seed colour Flower colour Stem length

round  wrinkled yellow green purple white

Pod shape Pod colour Flower position

axial terminal
(in the leaf (at the tip of
inflated constricted green yellow nodes) the shoot) tall short

Figure 26.9 Characteristics of pea plants studied by Mendel

A. Mendel’s experiments on monohybrid

inheritance
At first, Mendel studied the inheritance of one pair of contrasting
characters (i.e. two different expressions of a characteristic) of pea
plants at a time. Each of the characteristics he studied was controlled
by a single gene. The inheritance of this type of characteristics is
called monohybrid inheritance.
NOS note
Mendel was lucky in choosing to work with pea plants because the
The success of scientific inheritance of their characteristics is quite straight forward. If he had
investigation is the result of
dedication, ingenuity and luck.
worked with a different species, he might not have been able to work
out the laws of inheritance.

contrasting character 對比性狀

26- 10 monohybrid inheritance 單基因遺傳
 26 Basic genetics

In one of his experiments, Mendel cross-pollinated pure-breeding

Remember this
tall plants with pure-breeding short plants. The seeds were then
Pure-breeding plants always collected and sown. The plants produced were known as the first
produce offspring with the same
character when self-pollinated. filial generation (F1 generation). All plants in the F1 generation
were tall.

 Remove stamens from immature  Transfer pollen grains from the stamens of a
flower to prevent self-pollination. flower of another variety onto the stigma.

cross-pollination
stamen

flower of a tall plant flower of a

short plant
flower of a tall plant
(with stamens removed)
 Enclose the cross-pollinated
flower in a bag.  After fertilization, the carpel develops into a
pod with seeds inside.
fertilization
pod

bag
seed

 Collect the seeds and sow them;

all plants in the F1 generation are tall.

Figure 26.10 Mendel cross-pollinated tall pea plants with short pea plants to produce the F1 generation.

first filial generation 第一子代

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26 Basic genetics

The F1 tall plants were allowed to self-pollinate. The seeds collected

Remember this
from these F1 plants were then sown to produce the second filial
The reproductive structures of pea generation (F2 generation). Among the F2 generation, there were
flowers are completely enclosed
by petals. Therefore pea plants 787 tall plants and 277 short plants. The ratio of tall plants to short
usually self-pollinate. Mendel plants was about 3:1.
ensured self-pollination by
enclosing the flower in a bag so
F1 generation F2 generation
that no pollen from another plant
could pollinate that flower.
bag

Collect the seeds

and sow them

self-pollination and
fertilization

tall plants short plant

3       :       1
Figure 26.11 Mendel allowed the F1 tall plants to self-pollinate and
produce the F2 generation.

The above breeding experiment is an example of a monohybrid

cross, in which the two parent plants differ in only one single
characteristic. Mendel also performed other monohybrid crosses
on pea plants. Carry out the following activity to learn more.

 Skill-building Handling data

Activity 26.1 Analysing Mendel’s data of monohybrid crosses

The table below shows the results Mendel obtained from seven monohybrid crosses of pea plants.

Pure-breeding parents F1 F2 F2 ratio

Tall stem × short stem All tall 787 tall : 277 short 2.84 : 1
Axial flowers × terminal flowers All axial 651 axial : 207 terminal
Purple flowers × white flowers All purple 705 purple : 224 white
Inflated pods × constricted pods All inflated 882 inflated : 299 constricted
Green pods × yellow pods All green 428 green : 152 yellow
Round seeds × wrinkled seeds All round 5474 round : 1850 wrinkled
Yellow seeds × green seeds All yellow 6011 yellow : 2001 green

cont'd

second filial generation 第二子代

26- 12 monohybrid cross 單基因雜種雜交
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26 Basic genetics

1. Complete the table on p.12 by calculating the F2 ratios.

2. In Mendel’s time, people generally believed that parents’ characteristics are ‘blended’ in the
offspring (i.e. a tall parent and a short parent would produce offspring with medium stem length).
Explain whether Mendel’s results support this belief or not.

B. Interpretation of Mendel’s monohybrid

crosses
Mendel obtained very similar results when he carried out breeding
experiments using pea plants with different pairs of contrasting
characters. He noticed two things in particular:

In the F1 generation, only one of the two contrasting characters

of the parent plants was observed.

The character that had disappeared in the F1 generation

showed up again in the F 2 generation, and there was an
approximately 3:1 ratio of the two characters in the offspring.

Mendel knew nothing about genes or chromosomes. He proposed

that inherited characteristics were controlled by pairs of ‘heredity
factors’ passed on from parents to offspring. For each characteristic,
the offspring would receive two of these ‘factors’— one from each
parent.

We now know that these ‘heredity factors’ are alleles of the same
gene. Let us consider the cross between tall and short pea plants and
use modern genetic language to explain Mendel’s results:

In pea plants, the length of stems is controlled by a pair of

alleles. We use the symbol T to represent the allele for tallness
and t for shortness.

The pure-breeding tall parent has two alleles for tallness while
the short parent has two alleles for shortness. The genetic
makeup (or genotype) of the tall parent and the short parent
are TT and tt respectively. These pure-breeding parents are
homozygous (having two identical alleles) for the gene for stem
length. They are called homozygotes.

genotype 基因型
homozygote 純合子 26- 13
 26 Basic genetics

During gamete formation (meiotic cell division), homologous

chromosomes separate from each other, and the pair of alleles
controlling the same characteristic also seperates. Thus, each
gamete receives one allele from each pair (Figure 26.12). This
is called the law of segregation, or Mendel’s first law of
inheritance.

diploid parent cell

a pair of alleles

DNA replication

Meiosis I: homologous
chromosomes separate

Meiosis II: sister

chromatids separate

gametes

Figure 26.12 Separation of alleles during gamete formation

All gametes produced by the pure-breeding tall parent (TT)

contain the allele T, while all gametes produced by the pure-
breeding short parent (tt) contain the allele t.

Random fertilization of the gametes from the two parents

produces F1 plants with the genotype Tt. The F1 offspring are
heterozygous for the gene for stem length as they have two
different alleles. They are called heterozygotes.

Sharpen your skills The phenotype (observable character) of the F1 plants is tall
By convention, the initial letter of even though they contain an allele for shortness (t). This is
the dominant character is used
because allele T masks the expression of allele t. Allele T is
as the symbol for the gene.
However, we will avoid letters said to be dominant, and allele t is recessive.
with similar capital and small
letters, such as O and o, C and c. The F1 plants produce two types of gametes containing either
allele T or t.

law of segregation 分離定律 dominant 顯性

26- 14 heterozygote 雜合子 recessive 隱性
phenotype 表現型
 26 Basic genetics

When the F1 plants self-pollinate and their gametes combine

randomly during fertilization, three combinations of alleles are
possible: TT, Tt and tt. This gives rise to both tall and short
plants (F2 generation) in a ratio of 3:1. This ratio is called the
monohybrid ratio.

Parents: homozygous tall plant ✕ homozygous short plant

T   T t   t

meiosis
meiosis

Gametes: T t

fertilization

F1: T   t T   t

heterozygous tall plant ✕ heterozygous tall plant

meiosis

Gametes: T t T t

fertilization

F2: T   T T   t T   t t   t

tall short
Ratio: 3 : 1
Figure 26.13 Mendel’s monohybrid cross (stem length)
monohybrid ratio 單基因雜交比
26- 15
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26 Basic genetics

C. More examples of monohybrid

inheritance
Besides pea plants, other organisms also have characteristics that
are controlled by a single gene (Figure 26.14).

a b

x8
In fruit flies, the length of wings is In maize, the allele for dark-coloured
controlled by a pair of alleles. The grains (top) is dominant to the allele
allele for long wings (left) is dominant for light-coloured grains (bottom).
to the allele for vestigial wings (right).

c d
Remember this
Dominant characters are not
always more common than
recessive ones. For example, the
inheritance of six-fingered hands is
caused by a dominant allele but it
is not common.

In humans, whether a person has five or Albinism is caused by a recessive

six fingers on each hand is controlled by allele. An albino (left) lacks
a pair of alleles. The allele for six- pigments that give colour to the
fingered hands is dominant. skin, hair, eyes, etc.

Figure 26.14 Examples of characteristics controlled by a single gene

Practical 26.2 Observation of maize cobs with grains of different

colours

Procedure
1. Examine two maize cobs with both dark-coloured and light-
coloured grains carefully.
2. Count and record the number of dark-coloured and light-coloured
grains in each maize cob.
3. Calculate the ratio of the number of dark-coloured grains to light-
coloured grains in each maize cob.  Maize cobs with dark-coloured
and light-coloured grains

vestigial 退化的
26- 16 albinism 白化症
 26 Basic genetics

D. Predicting the outcomes of a mono-

hybrid cross
Genetic diagrams or Punnett squares can be used to predict the
outcomes of a particular cross. Both methods can show:

how alleles separate during gamete formation.

the possible combinations of alleles in the offspring.

1. Genetic diagram
Flipped classroom Consider a monohybrid cross between two fruit flies that are
Genetic heterozygous for long wings. In fruit flies, having long wings is the
diagrams
e-aristo.hk/r/ dominant character whereas having vestigial wings is the recessive
bioccflip2601.e character. Figure 26.15 shows how to construct a genetic diagram
for this cross.

Let N be the allele for having long wings

 Define a letter as the symbol for the gene.
Use the capital letter to represent the n be the allele for having vestigial wings
dominant allele and the small letter to
represent the recessive allele.
long long
wings wings

Parents: Nn Nn
 State the phenotype and the genotype of
each parent. Always write the dominant
allele first when writing the allele pairs.
Put an ‘×’ between the genotypes of the
parents to represent cross-breeding of two
genotypes.

Gametes: N n N n
 Write the possible alleles carried by the
gametes.

 Work out the genotypes of the offspring by F1 genotypes: NN Nn Nn nn

adding lines for all possible combinations of
gametes.

Phenotypes: long vestigial

 State the phenotypes of the offspring. wings wings

Figure 26.15 Steps of constructing a genetic diagram

genetic diagram 遺傳圖解

Punnett square 龐氏表 26- 17
 26 Basic genetics

2. Punnett square
The steps of constructing a Punnett square are shown below (Figures
26.16).

 Draw four boxes as shown on the right.

Male gametes
 Write the possible alleles for the male N n
gametes along the top, one above each
box. Write the possible alleles for the female N
gametes along the left side, one next to Female gametes
each box. n

Male gametes
 Write the possible combinations of gametes N n
inside each corresponding box. State the
phenotypes of the offspring. NN Nn
N
long wings long wings
Female gametes
Nn nn
n
long wings vestigial wings

Figure 26.16 Steps of constructing a Punnett square

Test yourself
In our example, the genotypic ratio of the offspring (NN:Nn:nn)
If 100 offspring are produced from
is 1:2:1.
two fruit files heterozygous for
long wings, how many of them will
be expected to have long wings? Since fruit flies with the genotypes NN and Nn have long wings
(Refer to p.A1 for answers.) Answer and those with the genotype nn have vestigial wings, the
phenotypic ratio of the offspring is 3:1 for long wings to vestigial
wings.

This means that 3 out of 4 offspring (75%) will have long wings,
and 1 out of 4 (25%) will have vestigial wings.

It should be noted that genetic diagrams and Punnett squares only

give expected results of a particular cross. The results actually
observed may not match the expected results. Normally, the larger
the number of offspring produced, the closer the observed results
will be to the expected results.

26- 18
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26 Basic genetics

E. Test cross
If an organism shows a dominant character (e.g. a tall pea plant),
it must have at least one dominant allele (T). However the other
allele may also be the dominant form (T) or it may be the recessive
form (t). In other words, its genotype can be either homozygous
dominant (TT) or heterozygous (Tt).

To determine the genotype of an organism showing a dominant

character, we can cross it with a homozygous recessive individual.
This is called a test cross.

The possible outcomes of a test cross between a tall pea plant and
a short pea plant (tt) are shown below (Figure 26.17):

If the tall plant is homozygous dominant, all of the F1 offspring

will be tall.

If the tall plant is heterozygous, half the number of the F1

offspring will be tall and half will be short. The phenotypic ratio
will be 1:1.

Case 1: If the tall plant is homozygous dominant Case 2: If the tall plant is heterozygous

Parents: tall short Parents: tall short

TT tt Tt tt

Gametes: T t Gametes: T t t

F1 genotypes: Tt F1 genotypes: Tt tt
Phenotypes: tall Phenotypes: tall short
(all offspring) Ratio: 1 : 1

Figure 26.17 Test cross between a tall pea plant and a short pea plant

test cross 測交
26- 19
 26 Basic genetics

Worked example 26.1

The fur colour of rat is controlled by a pair of alleles. The following shows the results of a cross between
two pure-breeding rats, one with black fur and the other with brown fur.

Parents:

Pure-breeding black rat Pure-breeding brown rat

F1: All are black

(a) Based on the results of the cross, deduce which phenotype, black fur or brown fur is dominant.
(3 marks)
(b) The F1 rats mated and produced the F2 rats. One F2 rat with black fur was then test crossed to a
pure-bred brown rat. The cross produced rats with black fur and brown fur in a ratio of 1:1. Explain
the results of the test cross with the use of a genetic diagram. (7 marks)

Solution
(a) As both parents are pure-breeding, the F1 produced are all heterozygous.................................. (1)
In the heterozygous condition, only the dominant allele will be expressed.................................. (1)
Therefore, black fur is the dominant phenotype. ........................................................................ (1)
(b) The F2 rat with black fur is heterozygous .................................................................................. (1)
because some of the offspring have brown fur. .......................................................................... (1)
Let B represent the allele for black fur
b represent the allele for brown fur ...................................................................................... (1)

Parents: F2 black fur brown fur

Reminder
Bb bb (1)
One mark will be deducted
if the genetic diagram is in
an improper format
(e.g. parent, gamete and
Gametes: B b b (1) offspring not indicated).

F3 genotypes: Bb bb (1)
Phenotypes: black fur brown fur (1)
Phenotypic ratio: 1 : 1

26- 20
All answers
26 Basic genetics

Key point
1. Monohybrid inheritance is the inheritance of a single characteristic that
is controlled by a single gene.
2. The law of segregation (Mendel’s first law) states that allele pairs
separate during gamete formation so that each gamete receives one allele
of each gene.
3. A dominant allele can express itself in both homozygous and
heterozygous conditions; a recessive allele can only express itself in a
homozygous condition.
4. A test cross involves crossing an organism of unknown genotype with a
homozygous recessive organism.
5. If the organism is homozygous dominant, all of the F1 offspring produced
after the test cross will show the dominant character.
6. If the organism is heterozygous, the F1 offspring produced after the test
cross will show dominant and recessive characters in a ratio of 1:1.

Checkpoint
1. Which of the following explains the law of segregation?
A. The number of chromosomes is halved during meiosis.
B. Alleles of a gene separate from each other during meiosis.
C. Chromosomes pair up randomly during meiosis.
D. Fertilization of male and female gametes is a random process.

2. The pod colour of pea plants is controlled by a pair of alleles. The
allele for green pods is dominant while the allele for yellow pods is
recessive. Which of the following combinations of cross and result
confirms that a pea plant with green pods is a homozygote?
Cross Result
A. Cross it with another pea All the F1 offspring have green pods
plant with green pods
B. Cross it with another pea Ratio of the F1 offspring with green
plant with green pods pods to those with yellow pods
is around 3:1
C. Cross it with a pea plant All the F1 offspring have green pods
with yellow pods
D. Cross it with a pea plant Ratio of the F1 offspring with green
with yellow pods pods to those with yellow pods
is around 1:1

26- 21
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26 Basic genetics

F. Mendel’s experiments on dihybrid

inheritance
Dihybrid inheritance is the simultaneous inheritance of two
characteristics. The two characteristics are controlled by two
different genes. A cross between two parents differing in two
characteristics is called a dihybrid cross.

In one experiment, Mandel studied the inheritance of the seed shape

and seed colour in pea plants:

He crossed pure-breeding (homozygous) plants having round

yellow seeds with pure-breeding plants having wrinkled green
seeds.

All the seeds produced (i.e. the F1 generation) were round and
yellow. Mendel knew that these two characters were dominant
from earlier monohybrid crosses.
round and yellow wrinkled and green
(pure-breeding) (pure-breeding)

cross-pollination
and fertilization

all round and yellow

Mendel then sowed the F1 seeds, allowed the plants to grow and
self-pollinate. The resulting seeds (F2 generation) showed four
different phenotypes:

Phenotype of Round and Round and Wrinkled Wrinkled

seeds yellow green and yellow and green

Number of
315 108 101 32
seeds produced

Based on the results of the dihybrid crosses, Mendel put forward the
law of independent assortment, also called Mendel’s second law of
inheritance. It states that, during gamete formation, alleles of one
gene separate independently of the others. In other words, the
inheritance of one characteristic is independent of the inheritance of
another.

dihybrid inheritance 雙基因遺傳

26- 22 dihybrid cross 雙基因雜種雜交
law of independent assortment 獨立分配定律
 26 Basic genetics

The diagram below explains the results of the dihybrid crosses. R

represents the allele for round seeds and r represents the allele for
wrinkled seeds; Y represents the allele for yellow seeds and y
represents the allele for green seeds.

Parents: round and yellow wrinkled and green

RRYY rryy

Gametes: RY ry

F1 genotypes: RrYy
Phenotypes: round and yellow

Gametes: RY Ry rY ry

F2: Male gametes

RY Ry rY ry

RRYY RRYy RrYY RrYy

RY

RRYy RRyy RrYy Rryy

Ry

Female gametes
RrYY RrYy rrYY rrYy
rY

RrYy Rryy rrYy rryy

ry

Figure 26.18 Results of Mendel’s experiment on dihybrid crosses

represented by a Punnett square

Random fertilization of the gametes from the F1 generation gives

rise to F2 generation with four different phenotypes in a ratio of
9:3:3:1. We call this the dihybrid ratio.

dihybrid ratio 雙基因雜交比

26- 23
 TE All answers
26 Basic genetics

Taking it further
Linkage—an exception to Mendel’s laws
So far, we have seen the inheritance of characteristics controlled by genes located on different chromosomes. Alleles
of one gene separate independently of the others during gamete formation. What will happen if the genes are on
the same chromosome?
When genes are close together on a chromosome, they tend to stay together during meiosis and enter the same
gamete. They are inherited as if they are a unit. These genes are said to be linked.

A A A Aa a a a A A A Aa a a a

B B B Bb b b b B B B Bb b b b

A A A A a a a a A A A A a a a a

B B b b B B b b B B B B b b b b

ABAB AbAb aB aB ab ab ABAB ab ab

gametes
gametes gametes
gametes
 Genes on different chromosomes segregate  Linked genes pass into the same gamete during
independently. gamete formation and are inherited together.

Key point
1. Dihybrid inheritance is the simultaneous inheritance of two
characteristics. The two characteristics are controlled by two different
genes.
2. The law of independent assortment (Mendel’s second law) states that
the separation of alleles of one gene is independent of the separation of
alleles of other genes during gamete formation.

Checkpoint
In a fruit fly experiment, normal winged, grey-bodied (homozygous
dominant) fruit flies were mated with vestigial winged, black bodied
(homozygous recessive) fruit flies. The F1 generation was then used in
a test cross. If the genes for wing length and body colour are located
on the same chromosome, what would be the phenotypic ratio in the
F2 generation?
A. 9:3:3:1
B. 1:1:1:1
C. 1:1
D. 3:1

26- 24
 TE
26 Basic genetics

Learning objective 26.4 Inheritance in humans

• Understand the inheritance of
ABO blood groups
• Recognize the role of sex A. The inheritance of ABO blood groups
chromosomes in sex
determination There are four main blood groups in humans: A, B, AB and O. A
• Understand the inheritance of person’s blood group is determined by the presence or absence of
sex-linked traits two types of antigens, A and B, on the surface of red blood cells.
• Analyse pedigree to study the
Depending on the blood group, the plasma may contain antibodies,
inheritance of traits
anti-A and anti-B, which combine with foreign red blood cell
antigens (Table 26.1).

Remember this Blood group A B AB O

Anti-A will combine with antigen Antigens on

A, and anti-B with antigen B. the surface of
red blood cells

Antigen A Antigen B Antigen A and None

antigen B

Antibodies in
the plasma

Anti-B Anti-A No anti-A or Anti-A and anti-B

anti-B

Table 26.1 Antigens and antibodies in different blood groups

The production of antigens on red blood cells is controlled by a

gene with three alleles (multiple alleles):

The IA allele leads to the production of antigen A.

The IB allele leads to the production of antigen B.

The i allele does not lead to the production of any antigen.

Although there are three alleles, each person can have only two, as
Possible
Blood group there are only two members in each pair of homologous
genotypes

A IAIA, IAi
chromosomes.

B IBIB, IBi Alleles IA and IB are codominant, meaning that both alleles can be
AB IAIB expressed in a heterozygote. The allelle i is recessive to alleles IA or
O ii IB, and can only be expressed in a homozygote. The genotypes for
the four blood groups are shown in Table 26.2.
Table 26.2 Genotypes for
ABO blood groups

antigen 抗原 codominant 等顯性

antibody 抗體 26- 25
multiple alleles 多等位基因
 26 Basic genetics

Blood groups are inherited from parents. The blood group

relationships between parents and children are shown below.

Blood group of the father

A B AB O
A A or O A, B, AB or O A, B or AB A or O
Blood
B A, B, AB or O B or O A, B or AB B or O Possible
group of
blood group
the AB A, B or AB A, B or AB A, B or AB A or B of children
mother
O A or O B or O A or B O

Table 26.3 The inheritance of ABO blood groups

Worked example 26.2

A woman with blood group A and a man with blood group B have a son who has blood group O. The
couple is going to have another child.
(a) Deduce the genotypes of the couple. (3 marks)
(b) Using a genetic diagram, deduce the possible blood group(s) of this second child. (5 marks)

Solution
(a) Their son has blood group O. He must have the genotype ii. ................................................... (1)
He must have received one allele i from each of his parents. ................................................... (1)
Therefore, the genotype of the mother is IAi and the genotype of the father is IBi. ..................... (1)
(b) Let IA be the allele for producing antigen A on the surface of red blood cells
IB be the allele for producing antigen B on the surface of red blood cells
i be the allele that does not lead to the production of any antigens
on the surface of red blood cells ........................................................................................ (1)

mother father
Parents: blood group A blood group B
IAi IBi (1)

Gametes: IA i IB i (1)

F1 genotypes: IA IB IA i IB i ii (1)
Phenotypes: blood group blood group blood group blood group
AB A B O
The possible blood groups of the second child are A, B, AB or O. ..................................... (1)

Try Exam practice Q17 (p.55)

26- 26
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26 Basic genetics

Blood groups and transfusions

If a recipient receives blood from a donor of an incompatible blood
group, the antibodies present in the recipient’s plasma will combine
with the antigens on the donor’s red blood cells. This causes the red
blood cells to clump together (Figure 26.19), which blocks blood
vessels and can kill the recipient.

x480

Figure 26.19 Clumping of red blood cells

The table below shows the compatibility of different blood groups.

Can receive blood of Can donate blood to

Blood group
group(s) group(s)

A A, O A, AB

B B, O B, AB

AB A, B, AB, O AB

O O A, B, AB,O

Table 26.4 Compatibility of blood groups

People with blood group AB do not have antibodies against

antigens A or B. Therefore, they can receive a transfusion from any
blood groups and are called universal recipients.

People with blood group O do not have antigen A or B on their red

blood cells. Therefore, they can donate blood to anyone and are
called universal donors. Blood group O is the most common blood
group worldwide.

B. Sex determination
Remember this Human body cells contain 23 pairs of chromosomes: 22 pairs of
In addition to sex, sex autosomes and one pair of sex chromosomes. Sex chromosomes
chromosomes also control some
control the inheritance of sex. There are two types of sex
other characteristics of the body.
chromosomes, the X chromosome and the Y chromosome. Females
have two X chromosomes (XX), while males have one X chromosome
and one Y chromosome (XY) (Figure 26.20 on the next page).

autosome 常染色體
sex chromosome 性染色體 26- 27
 TE
26 Basic genetics

sex sex
chromosomes chromosomes
Figure 26.20 Karyotypes of a female (left) and a male (right) showing the diploid sets of chromosomes

When meiosis takes place in the female’s ovary, all ova receive an X
chromosome. However, meiosis in the male’s testes produces
sperms, half of which receive an X chromosome and the other half
receive a Y chromosome.
Remember this
A baby’s sex depends on whether the sperm that fertilizes the ovum
The X chromosome is much larger bears an X chromosome or a Y chromosome. If an X-bearing sperm
and carries more genes than the Y
fertilizes the ovum, the resulting zygote will have two X chromosomes
chromosome. Despite their size
difference, the X and Y (XX) and will develop into a female. If a Y-bearing sperm fertilizes the
chromosomes pair up during ovum, the resulting zygote will have an X chromosome and a Y
meiosis I.
chromosome (XY) and will develop into a male.

Since the two types of sperms are produced in equal proportions and
fertilization is a random process, there is an equal chance of having
a boy or a girl at each birth (Figure 26.21).
Parents: male female
Test yourself XY XX
A married couple already has
three daughters but no sons.
What is the probability that the
next child will be a boy? Gametes: X Y X
Answer
(Refer to p.A1 for answers.)

F 1: XX XY
female male
Figure 26.21 Sex determination
in humans Ratio: 1 : 1

karyotype 核型
26- 28
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26 Basic genetics

Taking it further
The role of the Y chromosome in sex determination
The Y chromosome carries a gene called SRY (sex-determining
region Y) that determines the sex of a human embryo. In the
seventh week of development, this gene triggers the formation of Y chromosome
testes in XY embryos. The testes are the primary male reproductive
organs. They produce male sex hormones which cause the X chromosome
development of male sexual characteristics.
In an XX embryo where SRY is absent, ovaries form instead of
testes. The ovaries produce female sex hormones which cause the
development of female sexual characteristics. x6500
Sex chromosomes of a male


C. Inheritance of sex-linked traits

Sex chromosomes not only determine the sex of an individual, but
also carry genes that control some other body traits. Those genes
located on the sex chromosomes are known as sex-linked genes.
The traits they control are known as sex-linked traits.

Because the human X chromosome carries many more genes than

the Y chromosome, most of the sex-linked genes are on the X
chromosome. These genes are said to be X-linked.

Red-green colour blindness

Red-green colour blindness is an X-linked genetic disorder. It is
caused by a recessive allele on the X chromosome. People with
red-green colour blindness have difficulty in distinguishing red
colour and green colour.

Figure 26.22 Vision of people with normal colour vision (left) and red-
green colour blindness (right)

sex-linked 性連鎖
red-green colour blindness 紅綠色盲 26- 29
 26 Basic genetics

The table below shows the possible genotypes and phenotypes

concerning colour vision. We use R to represent the dominant allele
for normal colour vision, and r to represent the recessive allele for
red-green colour blindness.

Remember this Genotype Phenotype

As the alleles are linked to the X XRXR Female with normal colour vision
chromosome, they are written as
XRXr Female with normal colour vision (carrier)
superscript letters above the letter
r r
X. There is no equivalent allele on XX Female with red-green colour blindness
the Y chromosome. R
X Y Male with normal colour vision

XrY Male with red-green colour blindness

Table 26.5 Possible genotypes and phenotypes concerning colour vision in

humans

Since a female has two X chromosomes, if she has a recessive

allele on one of her X chromosomes but a dominant allele on her
other X chromosome, she will still have normal colour vision. She is
said to be a carrier because she carries the recessive allele but does
not express it. A female will suffer from red-green colour blindness
only if both of her X chromosomes carry the recessive allele.

Males have only one X chromosome and if their X chromosome

carries the recessive allele, they will be red-green colour-blind. This
explains why red-green colour blindness is more common in males
than in females.

Consider a cross between a man with normal colour vision (XRY)

with his wife who is a carrier of red-green colour blindness (XRXr):

Parents: male with normal female carrier with

colour vision normal colour vision
XRY XRXr

Gametes: XR Y XR Xr

F1 genotypes: XRXR XRXr XRY XrY

Phenotypes: female with female carrier male with male with red-
normal colour with normal normal colour green colour
vision colour vision vision blindness
Ratio: 1 : 1 : 1 : 1

Figure 26.23 A genetic diagram showing the inheritance of red-green

colour blindness from a carrier female

carrier 帶基因者
26- 30
 26 Basic genetics

For a male, the Y chromosome could have come only from his
father. His X chromosome must therefore have come from his
mother. Since the recessive allele for red-green colour blindness is
linked to the X chromosome, a male must always inherit the disorder
from his mother.

Now consider a cross between a red-green colour-blind man (XrY)

and his wife who has normal colour vision (XRXR):
Parents: male with red-green female with normal
colour blindness colour vision
XrY XRXR

Gametes: Xr Y XR

F1 genotypes: XRXr XRY

Phenotypes: female carrier with male with normal
normal colour vision colour vision
Ratio: 1 : 1

Figure 26.24 A genetic diagram showing the inheritance of the recessive

Test yourself allele from a red-green colour-blind male
A red-green colour-blind woman
marries a man with normal colour As the male passes the Y chromosome to his sons, he cannot pass
vision. What is the probability that red-green colour blindness to them. However, he can pass the
their son will have normal colour
recessive allele to his daughters via the X chromosome. His
vision?
(Refer to p.A1 for answers.)
Answer daughters will be carriers.

STSE connections
Choosing the sex of a baby
Modern technologies may allow couples to choose the sex of their babies.
Based on the size difference between X and Y chromosomes, sperms bearing
an X or a Y chromosome can be separated in a centrifuge—Y-bearing sperms
are less dense. If a woman wanted to have a boy, she could be inseminated
with semen containing a higher proportion of Y-bearing sperms and she is
more likely to conceive a boy. Alternatively, if the woman is undergoing in vitro
fertilization, the ovum is fertilized in the laboratory with the sperms selected.
Choosing the sex of children may help
prevent sex-linked genetic diseases.
However, it also raises moral and social
issues. There are concerns that it may further
distort the sex ratio in countries where
children of a particular sex are preferred, and
reinforce sex discrimination.
 Should parents be allowed to
choose their baby’s sex?

26- 31
 TE
26 Basic genetics

D. Studying inheritance by pedigree

analysis
Flipped classroom For some organisms such as pea plants and fruit flies, scientists can
Pedigree perform crosses to study patterns of inheritance. This method is not
analysis
e-aristo.hk/r/ ethically acceptable for studying humans. Instead, scientists analyse
bioccflip2602.e the results of crosses that have already occurred. They collect
information about the occurrence of a particular trait through
several generations in a family, and organize this information into a
chart, called a pedigree.

By analysing a pedigree, we can find out whether a trait is associated

with a dominant or recessive allele, and whether it is sex-linked or
not. We can also work out the possible genotypes of the family
members and predict how likely it is for the trait to occur in future
generations.

Let us consider the inheritance of bent little fingers (Figure 26.25) as

an example. Whether a person has straight or bent little fingers is
controlled by a pair of alleles. The pedigree below (Figure 26.26)
Figure 26.25 Bent little
shows the inheritance of bent little fingers through three generations
finger in a family. Males are represented by squares and females by circles.

Key:
Husband and wife are linked by a
horizontal line and their children male with straight
are shown below them little fingers
female with straight
little fingers
I
male with bent little
1 2 fingers

Each generation is female with bent

indicated by a Roman little fingers
numeral (e.g. I, II, etc.)
II

3 4 5 6

Each individual is
III indicated by an Arabic
numeral (e.g. 1, 2, etc.)
7

Figure 26.26 A pedigree showing the inheritance of bent little fingers in a family

pedigree 譜系
26- 32
 26 Basic genetics

Based on the pedigree, we can deduce whether the allele for bent
little fingers is dominant or recessive:

a Individual 7 has straight little fingers. She must have at least

one allele for straight little fingers that she has inherited from
either of her parents (individuals 5 and 6).

b Individuals 5 and 6, have bent little fingers. Each of them must

have at least one allele for bent little fingers.

c From a and b , it can be deduced that at least one of individuals

5 and 6 is heterozygous.

d In a heterozygous condition, only the dominant allele can

express its effect. Since individuals 5 and 6 have bent little
fingers, the allele for bent little fingers is dominant.

Is the allele for bent little fingers sex-linked? We can work out the
answer this way:

e Individual 1 has bent little fingers.

f If the dominant allele for bent little fingers is X-linked, individual

1 must have an X chromosome bearing the allele. His daughter,
individual 3 must have inherited the X chromosome bearing the
allele for bent little fingers.
g If the dominant allele for bent little fingers is Y-linked, individual
1 must have a Y chromosome bearing the allele. His son,
individual 4 must have inherited the Y chromosome bearing the
allele for bent little fingers.

h However, both individuals 3 and 4 have straight fingers.

Therefore, it is impossible for the allele for bent little fingers to
be sex-linked.

After knowing that the allele for bent little fingers is dominant and
that it is not sex-linked, we can deduce that:

i Individuals 2, 3, 4 and 7 have straight little fingers and are

homozygous recessive.
j Since individual 7 is homozygous recessive for straight little
fingers, she must have received one recessive allele from each
of her parents. Individuals 5 and 6 are thus both heterozygous.

k Individual 1, having bent little fingers, must have at least one

dominant allele for bent little fingers. Since he has children
showing the recessive trait, he is heterozygous.

26- 33
 26 Basic genetics

If individuals 5 and 6 are going to have another child, what is the

chance of this child having bent little fingers? The genetic diagram
below shows the possible outcomes of the cross. B represents the
allele for bent little fingers while b represents the allele for straight
little fingers.

Parents: individual 5 individual 6

Bb Bb

Gametes: B b B b

F1 genotypes: BB Bb Bb bb

Phenotypes bent little fingers straight little fingers

Ratio: 3 : 1

Figure 26.27 A genetic diagram showing a cross between individuals 5 and 6

There is a 75% chance of the next child having bent little fingers.

Worked example 26.3

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is caused by a recessive allele located on the

X-chromosome. The enzyme G6PD protects red blood cells from premature damage. People with G6PD
deficiency will suffer a massive destruction of red blood cells when exposed to certain foods or drugs.
The pedigree below shows the inheritance of G6PD deficiency in a family.

I Key:

1 2
normal female

II ? male with G6PD deficiency

(a) Without using a genetic diagram, deduce the genotype of individual 2. (4 marks)
(b) Individuals 1 and 2 are going to have another child. With the aid of a genetic diagram, find the
probability of this child being a girl with G6PD deficiency. (5 marks)

cont'd

26- 34
 26 Basic genetics

Solution
(a) Individual 3 has G6PD deficiency. He must have an X
chromosome bearing the recessive allele for G6PD deficiency.
........................................................................................... (1)
Individual 3 must have inherited the X chromosome bearing the Reminder
recessive allele from his mother (individual 2). ................... (1) A male receives an X chromosome
from his mother and a Y
On the other hand, individual 2 is normal. She must have an X chromosome from his father.
chromosome bearing the dominant normal allele. .............. (1)
Hence, the genotype of individual 2 must be heterozygous..(1)
Reminder
Individual 2 is a carrier of the
(b) Let G represents the allele for producing normal G6PD allele for G6PD deficiency.
g represents the allele for producing abnormal G6PD.... (1)

Parents: individual 1 individual 2

g
Reminder
XY XGXg
Do not forget to put a ‘×’ between
individuals 1 and 2 to indicate the
cross.
Gametes: Xg Y XG Xg

F1: XGXg XgXg XGY XgY

female with
G6PD deficiency

Correct genetic diagram...................................................... (3)

The probability of this child being a girl with G6PD deficiency is
1/4 (or 25%). ..................................................................... (1)

Try Exam practice Q21 (p.56)

Key point
1. A gene with more than two alternative forms is said to have multiple
alleles. Blood groups in humans are determined by a single gene with
three alleles: IA and IB are co-dominant, and i is recessive.
2. Sex in humans is determined by a pair of sex chromosomes. Females have
two X chromosomes while males have one X chromosome and one Y
chromosome.
3. Genes located on the sex chromosomes and the traits they control are said
to be sex-linked.
4. A pedigree shows the pattern of inheritance of a trait through generations
in a family.

26- 35
 TE All answers
26 Basic genetics

Checkpoint
The pedigree below shows the inheritance of an X-linked genetic
disease in a family.
I Key:

1 2
normal male

normal female
II
male with the disease
3 4 5

female with the disease

III ?
? female not diagnosed
6 7

What can be deduced from the pedigree?

A. The genetic disease is caused by a dominant allele.
B. If individuals 1 and 2 have a son, he must have the genetic disease.
C. Individual 3 is a carrier of the genetic disease.
D. Individual 6 must have inherited the genetic disease.

26.5 Variations in characteristics

Learning objective
A. What is variation?
• Distinguish between
continuous variation and Variations refer to the differences in characteristics shown by
discontinuous variation
organisms of the same species. For example, all dogs belong to the
• Explain the causes of different
types of variation in same species (Canis familiaris). Variations between two dogs may
characteristics include the colour or texture of their fur, or their size.

Figure 26.28 Dogs show a wide variation in appearance

There are two types of variation: discontinuous variation and

continuous variation.

discontinuous variation 不連續變異

26- 36 continuous variation 連續變異
 26 Basic genetics

1. Discontinuous variation
Discontinuous variation is a type of variation that has a few distinct
phenotypes and no intermediate forms. For example, all the pea
plant characteristics Mendel studied show discontinuous variation—
tall or short stems, purple or white flowers, round or wrinkled seeds,
etc. Examples in humans include shape of earlobes and blood
groups.

Characteristics showing discontinuous variation are usually

controlled by one gene and are relatively unaffected by the
environment.

The results of surveys involving discontinuous variation can be

presented in bar charts (Figure 26.29).

2. Continuous variation
Some characteristics, such as body height, weight, intelligence
quotient (IQ), show variation that comes in a range of values with
intermediates between the two extremes. This type of variation is
called continuous variation.

Characteristics showing continuous variation are usually controlled

by many genes and may be affected by the environment.

The results of surveys involving continuous variation can be

presented in histograms. When the sample size is large, joining the
midpoints at the top of each bar usually results in a bell-shaped
curve known as a normal distribution curve (Figure 26.30). This
shows that most individuals fall in the middle of the range and
fewer numbers on each end. This is one of the characteristics of
continuous variation.
50
Percentage in population (%)

40
500
Number of people

30 400

300
20
200
10
100

0 0
A B AB O 159 163 167 171 175 179 183
Blood group Height (cm)
Figure 26.29 Variation in blood groups Figure 26.30 Variation in heights of humans showing
of Hong Kong population a normal distribution

26- 37
 All answers
26 Basic genetics

 Skill-building Presenting information

Activity 26.2
26.2 Studying variations in humans

1. Observe the ears of your classmates. Check whether they have free earlobes or attached earlobes.

 Free earlobe (left) and attached earlobe (right)

2. Count the numbers of students in your class with free earlobes and those with attached earlobes.
Calculate the percentage of each group of students. Record the results in the table below.

Number of students Percentage

Free earlobes
Attached earlobes

3. Measure the heights of students in your class.

4. Divide the heights into equal intervals (e.g. 141–145 cm, 146–150 cm).
5. Count the number of students in each height interval. Record the results in the table below.

Height interval (cm) Number of students

cont'd

26- 38
 All answers
26 Basic genetics

6. Present the results in a histogram.

7. Which characteristic shows continuous variation, and which shows discontinuous variation?

8. Your histogram may not look very similar to Figure 26.30 on p.37. How would you modify the
survey so that the data obtained are more likely to show a normal distribution?

26- 39
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26 Basic genetics

B. What causes variations?

Variations in organisms can be caused by genetic factors,
environmental factors, or a combination of both (i.e. the expression
of genes may be affected by the environment).

1. Genetic causes of variations

Some characteristics, such as blood groups and sex, are determined
entirely by genes, and any variation that occurs is due to genetic
differences between individuals. Such variations are called genetic
variations. Below are some sources of genetic variations.

a. Independent assortment of chromosomes at meiosis

Link it
The independent assortment of chromosomes during meiosis leads
For details of independent
assortment and crossing over of to the formation of gametes with different combinations of alleles.
chromosomes, refer to Chapter 12.
b. Crossing over at meiosis
During prophase I of meiosis, crossing over may occur. Non-sister
chromatids of homologous chromosome pairs exchange segments
of DNA with one another. This gives rise to new combinations of
alleles in the gametes formed (Figure 26.31).

Homologous chromosomes Two allele combinations in

pair up in prophase I; the gametes formed
without crossing over
A B A B
meiosis II
A B A B

a b a b
a b a b

Crossing over occurs in Four allele combinations in

prophase I the gametes formed
A B A B
meiosis II
A b A b

a B a B
a b a b

Figure 26.31 Crossing over as a source of genetic variation

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26 Basic genetics

c. Random fertilization of gametes

During fertilization, male and female gametes with different genetic
makeup fuse randomly together. This produces different
combinations of alleles and gives rise to offspring with different
combinations of characters.

d. Mutations
Link it
A sudden and permanent change in the genetic material of an
You will learn more about organism is called a mutation. Mutations can change the structure
mutations in Chapter 27.
and function of a protein, resulting in a change in phenotype.

Mutations that occur in the body cells of an individual will not affect
its offspring. However, mutations that occur in gametes or gamete-
producing cells are inheritable and can affect future generations.

2. The influence of the environment

Test yourself Environmental factors also affect the development of phenotypes of
Are variations caused by the organisms. For example, a person may have a genetic tendency to
environment inheritable?
Answer be underweight or obese, but his or her actual weight also depends
(Refer to p.A1 for answers.)
on diet and exercise. This is best illustrated in cases of identical
twins, which have exactly the same genotype. If one of a pair of
identical twins eat more than the other, but both do similar amounts
of exercise, the former will probably become heavier.

Below are some examples in which environmental factors contribute

to variation.

Figure 26.32 Scientists have found that Figure 26.33 Our skin colour is primarily
several genes are associated with obesity. determined by genes that control the
However, our body weight is largely affected production of skin pigments, but it can also
by what we eat and how active we are. be darkened by frequent exposure to
sunlight.

mutation 突變
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26 Basic genetics

acidic soil alkaline soil

garlic chives

yellow chives

Figure 26.34 The pH of soil can affect the Figure 26.35 The gene for chlorophyll
colour of some flowers. For example, production is functional only in the
hydrangeas produce blue flowers in acidic presence of light. If farmers shield garlic
soil and pink flowers in alkaline soil. chives from sunlight, the plants cannot
produce chlorophyll and turn yellow. The
resulting plants are known as yellow chives.

Siamese cat Himalayan rabbit

Figure 26.36 Temperature affects the production of pigment in the fur of some animals.
Siamese cats and Himalayan rabbits have white fur covering their bodies but have darker
coloured fur on their ears, legs and tails. This is because these areas remain at lower
temperatures, and the gene that controls pigment production can only be expressed at lower
temperatures.

STSE connections
Inbreeding
Inbreeding refers to the mating of two organisms that are closely related
genetically, such as a mating of siblings. In human societies, such inbreeding
is illegal for social, moral and biological reasons. However, it is used by breeders
to keep desirable characteristics in pure-breeding animals through many
generations.
From a biological point of view,
inbreeding is undesirable because it
reduces genetic variation in the offspring.
Inbred individuals are homozygous for
many genes, resulting in higher chances
of genetic diseases caused by recessive
alleles. Dogs produced by inbreeding
often show different degrees of health
problems. Many Golden Retrievers suffer

problems in their joints due to
inbreeding.

inbreeding 近親交配
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26 Basic genetics

Key point
1. Variations refer to the differences in characteristics shown by organisms
of the same species.
2. Discontinuous variation has a few distinct phenotypes with no
intermediate forms, whereas continuous variation has a range of values
with intermediates between the two extremes.
3. Variations can be caused by genetic factors, environmental factors or a
combination of both.
4. Variations due to genetic differences between individuals are called
genetic variations.

Checkpoint
1. Identical twins have the same
(1) genotype.
(2) traits involving continuous variations.
(3) traits involving discontinuous variations.
A. (1) and (2) only
B. (1) and (3) only
C. (2) and (3) only
D. (1), (2) and (3)

HKDSEE Biology 2012 Paper 1 Section A Q15

2. Which of the following combinations correctly gives an example of

discontinuous variation and states its causes?
Example Causes
A. body height genetic factors only
B. body height both genetic and environmental factors
C. blood group genetic factors only
D. blood group both genetic and environmental factors

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26 Basic genetics

Article reading

Haemophilia—a royal disease

Haemophilia is a genetic disorder in which the blood does not clot properly due to the absence
of a protein involved in blood clotting. This can lead to uncontrollable bleeding when injured.
Haemophilia is a life-threatening condition, but it can be treated by injecting the blood-
clotting protein.
The disease is caused by a recessive allele on the X chromosome. A famous example of the
inheritance of haemophilia is related to the royal families of Europe. Queen Victoria (1819–1901)
of Great Britain was the first known carrier of the allele for haemophilia in the British royal family.
One of her sons had haemophilia, and two of her daughters were carriers. From them, the
allele has spread through the royal families of Europe, including Russia and Spain, because
there was a custom that royal children often married those from the royal families of other
countries.

Key:
Normal male Hemophilic male
Normal female Carrier female
Queen Victoria

unaffected
children
Edward VII

unaffected
present British children
Irene Prince Henry Alexandra Nicholas II Alice Victoria Alphonso XIII
royal family (German) (Russia) (Spain)
(unaffected)

?
died as
a child

▲
A pedigree showing the inheritance of haemophilia in the royal families of Europe

Questions

1. The pedigree above shows that haemophilia is more common in males than in females.
Explain why. (3 marks)

2. With the aid of a genetic diagram, deduce the probability of the son of Princess Alice, who
died as a child ( ? ), being haemophiliac. (5 marks)

3. There was no history of haemophilia in generations prior to Queen Victoria. Suggest a likely
reason for the appearance of the haemophilia allele in the pedigree above. (1 mark)

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 26 Basic genetics

e-dictionary
Key terms e-aristo.hk/r/
bioccedict.e

allele 等位基因 p.8 law of segregation 分離定律 p.14

autosome 常染色體 p.27 monohybrid inheritance 單基因遺傳 p.10

continuous variation 連續變異 p.36 multiple alleles 多等位基因 p.25

dihybrid inheritance 雙基因遺傳 p.22 mutation 突變 p.41

discontinuous variation 不連續變異 p.36 pedigree 譜系 p.32

dominant 顯性 p.14 phenotype 表現型 p.14

gene 基因 p.3, 8 Punnett square 龐氏表 p.17

genetic diagram 遺傳圖解 p.17 recessive 隱性 p.14

genotype 基因型 p.13 sex chromosome 性染色體 p.27

heterozygote 雜合子 p.14 test cross 測交 p.19

homozygote 純合子 p.13 trait 特徵 p.8

law of independent assortment 獨立分配定律 p.22 variation 變異 p.3, 36

Summary

26.1 What is genetics?

　

1. Genetics is the study of heredity and variations in organisms.

26.2 DNA, chromosomes and genes

　

2. Chromosomes are made up of DNA and proteins.

3. A DNA molecule consists of two polynucleotide chains that run in opposite directions and are twisted
together to form a double helix. The two polynucleotide chains are held together by hydrogen bonds
between the bases. A pairs with T, and G with C.
2 nm

sugar-phosphate
backbone a nucleotide
base

a complete
turn with 10
base pairs
base pair

hydrogen bond

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 26 Basic genetics

4. DNA is an ideal material for the storage of genetic information:

• It is a large molecule so it can store a large amount of genetic information.

• It is a stable molecule.
• It can replicate so that genetic information can be passed on to new cells.

5. A gene is a short length of DNA in a chromosome. Genes determine the body characteristics of an
organism by controlling what proteins are made.

6. The position of a particular gene on a chromosome is called a gene locus.

7. A gene may have two or more alternative forms, called alleles. The alleles lie at the same gene locus on a
pair of homologous chromosomes.

8. Homozygous refers to having two identical alleles for a gene; heterozygous refers to having two different
alleles.

26.3 Mendel’s laws of inheritance

　

9. Monohybrid inheritance is the inheritance of a single characteristic that is controlled by a single gene.

10. The law of segregation (Mendel’s first law) states that allele pairs separate during gamete formation so
that each gamete receives one allele of each gene.

11. The meaning of some terms commonly used in genetics:

Term Meaning

Genotype The genetic makeup (combination of alleles) of an organism.

Phenotype The observable characteristic of an organism.

Dominant An allele is said to be dominant when it can express its effect whether in a homozygous
or heterozygous condition.

Recessive An allele is said to be recessive when it can express its effect only in a homozygous
condition.

12. A test cross can be used to determine the genotype of an organism with a dominant characteristic. It
involves crossing the organism of unknown genotype with a homozygous recessive organism:

• If the organism is homozygous dominant, all the F1 offspring produced after the test cross will show the
dominant character.
• If the organism is heterozygous, the F1 offspring produced after the test cross will show dominant and
recessive characters in a ratio of 1:1.

13. Dihybrid inheritance is the simultaneous inheritance of two characteristics. The two characteristics are
controlled by two different genes.

14. The law of independent assortment (Mendel’s second law) states that the separation of alleles of one
gene is independent of the separation of alleles of other genes during gamete formation.

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 26 Basic genetics

26.4 Inheritance in humans

　

15. Blood groups in humans are determined by the types of antigens present on the surface of red blood cells.
The production of antigens A and B is controlled by a gene with multiple alleles. IA and IB are co-dominant,
and i is recessive.

Blood group Genotype Antigens on red blood cell Antibodies present in blood plasma

A IAIA or IAi Antigen A Anti-B

B IBIB or IBi Antigen B Anti-A

AB IAIB Antigen A and Antigen B None

O ii None Anti-A and anti-B

16. Sex in humans is determined by a pair of sex chromosomes. Females have two X chromosomes while
males have one X chromosome and one Y chromosome.

17. Genes located on the sex chromosomes and the traits they control are said to be sex-linked.

18. A pedigree shows the pattern of inheritance of a trait through generations in a family.

26.5 Variations in characteristics

　

19. Variations refer to the differences in characteristics shown by organisms of the same species.

20. There are two types of variation: discontinuous variation and continuous variation.

Discontinuous variation Continuous variation

Number of Has a few distinct phenotypes with no Has a range of values with intermediates
phenotypes intermediate forms between the two extremes

Characteristic None Normal distribution curve

curve

Characteristics • Usually controlled by one gene • Usually controlled by many genes

• Relatively unaffected by the environment • May be affected by the environment

Examples • Shape of earlobes • Height

• Blood groups • Weight
• Intelligence quotient (IQ)

21. Variations can be caused by genetic factors, environmental factors or a combination of both.

22. Variations due to genetic differences between individuals are called genetic variations. Genetic variations
occur as a result of:

• independent assortment of chromosomes at meiosis

• crossing over at meiosis
• random fertilization of gametes
• mutations

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26 Basic genetics

Concept map
Complete the following concept map to review the key points of this chapter.

Genetics

is the study of

heredity

the information have two types

is carried by

genes
continuous discontinuous
are segments of variation variation
exist in alternative
forms called

are due to

wraps around
proteins to form
genetic
variations
factors
chromosomes

caused by

independent assortment between random mutation

of chromosomes
non-sister chromatids

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26 Basic genetics

Time allowed: 40 minutes

Self quiz Total score: 30 marks

Level 1: Understanding basic concepts (8 marks, 1 mark each)

1. The diagram below represents a section of a DNA What is/are the possible genotype(s) of the purple-
molecule. flowered parent plant?

IV I A. FF
II
B. Ff
III C. FF or Ff
D. ff

5. Referring to the cross in question 4, the actual ratio

of phenotypes differs from the one predicted based
on Mendel’s laws of inheritance. This is because

A. the inheritance of flower colour in pea plants

does not follow Mendel’s laws.

Which label(s) on the diagram is/are part(s) of a B. the parent plants are not pure-breeding.
nucleotide? C. too many offspring are produced.

A. I only D. fertilization occurs randomly.

B. I and II only
6. A couple have children of blood group O, AB and
C. I, II and III only A. What are the genotypes of the couple?

D. I, II, III and IV A. IAIB and IAIB

2. A segment of DNA with 100 base pairs contains 36 B. IAIB and ii

guanine bases. How many adenine, thymine and C. IAIA and IBIB
cytosine bases does it contain?
D. IAi and IBi
adenine thymine cytosine
A. 14 14 36 7. Which of the following regarding the inheritance of
sex-linked diseases is incorrect?
B. 14 36 14
C. 64 36 64 A. X-linked diseases are more common than
D. 64 64 36 Y-linked diseases.
B. X-linked recessive diseases are more common
3. Suppose a particular characteristic is controlled by than X-linked dominant diseases.
a dominant allele, A, and a recessive allele, a. C. X-linked recessive diseases are more common
Which of the following crosses would result in a 1:1 in males than in females.
ratio of the two phenotypes among the offspring?
D. Males always inherit sex-linked diseases from
A. AA × aa their father.

B. Aa × Aa
8. Which of the following does not contribute to
C. Aa × aa genetic variations?

D. aa × aa A. Separation of chromatids in mitosis

4. In pea plants, the flower colour is controlled by a B. Random assortment of chromosomes in

pair of alleles. The allele for purple flower (F) is meiosis
dominant to the allele for white flower (f). A cross C. Crossing over
between a purple-flowered plant and a white-
flowered plant gave rise to 36 purple-flowered D. Random fertilization
plants and 8 white-flowered plants in the F1
generation.

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 26 Basic genetics

Level 2: Applying concepts (19 marks)

9. Disease H is a genetic disease. Whether a person has this disease or not is determined by a pair of alleles. The
pedigree below shows the inheritance of this disease in a family.

Key:

1 2
normal male

normal female

male with disease H

3 4 5 6

7 8 9 10

(a) Deduce, with reason, whether the allele for disease H is dominant or recessive. (Marks will not be awarded for
Answer
genetic diagrams.) (5 marks)
(b) Using H to represent the dominant allele and h to represent the recessive allele, state the genotype of
Answer
(i) individual 3. (1 mark)
Answer
(ii) individual 10. (1 mark)
(c) The genotypes of individuals 1 and 2 are the same as that of their son (individual 4). Explain why they do not
Answer
have a diseased child while individual 4 does. (3 marks)

10. A human zygote is formed by the fusion of an ovum and a sperm.

(a) If the zygote contains an X chromosome and a Y chromosome, what are the sex chromosomes carried by the
Answer
ovum and the sperm respectively? (2 marks)
Answer
(b) Explain why there are approximately equal numbers of males and females born. (3 marks)
(c) (i) Identical twins are formed when a zygote splits in two and separates, developing into two embryos. Compare
the alleles present in a pair of identical twins. (1 mark)Answer
(ii) Emma, Mia and Sophie are triplets, two of whom are identical twins. The table below gives information about
some of their characteristics.

Characteristic Emma Mia Sophie

Sex Female Female Female

Height (m) 1.65 1.63 1.62

Weight (kg) 51 50 50

Skin colour tanned pale pale

Blood group A A O

Answer
Which two girls are identical twins? Explain your answer. (3 marks)

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26 Basic genetics

Level 3: Building a better answer (3 marks)

11. Read the following question and student A’s answer. Re-write and improve the answer based on the teacher’s
comment.

Question
Sickle-cell anaemia is a genetic disease caused by a recessive allele. In a family, the parents do not have
sickle-cell anaemia. They have two children, Ivan and Sam. Only Ivan has sickle-cell anaemia. Deduce, with
Answer
reasons, the genotypes of the parents. (3 marks)

Student A’s answer

The two parents are normal but have a diseased child, so their genotypes are heterozygous.

Teacher's comment
Genotypes should be logically deduced using the concept of alleles, not by referring only to the phenotypes
of offspring and parents.

Answers are available on p. A1. If you miss any of the questions, review the section(s) again.

Question 1 2 3 4 5 6 7 8 9 10(a)–(b) 10(c) 11

Section(s) 26.2 26.2 26.3 26.3 26.3 26.4 26.4 26.5 26.4 26.4 26.5 26.4

Exam practice

Multiple-choice questions 3. Which of the following statements about alleles is

correct?
Section 26.2
A. Dominant alleles occur more frequently in a
1. In a DNA of yeast, 30% of the nitrogenous bases population.
are guanine (G). What is the ratio of cytosine (C) to
B. Recessive alleles are less important for the
thymine (T) in this DNA molecule?
survival of an individual.
A. 1:1 C. The alleles of a gene only have one dominant
B. 2:1 form.

C. 3:2 D. The dominant allele and the recessive allele of

the same gene have different DNA base
D. 3:7 sequences.
HKDSEE Practice Paper Biology
Paper 1 Section A Q1
Section 26.3
4. In humans, normal skin pigmentation is dominant
2. The DNA of humans and dogs are different in to albinism. If two normal parents have an albino
which of the following aspects? child, what is the probability of their second child
being normal?
A. the type of pentose sugar
B. the types of nitrogenous bases A. 75%

C. the sequences of nitrogenous bases B. 50%

D. the ratio of guanine to cytosine C. 25%

D. 0%

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26 Basic genetics

Directions: Questions 5 and 6 refer to the following two Directions: Questions 7 and 8 refer to the information
crosses of fruit flies. In fruit flies, males are the below. Kathy had two pure-bred cats, one had long
heterogametic sex (XY) and the wing shape (normal white fur while the other had short black fur. It is known
wing or cut wing) is controlled by a single gene. that fur length and fur colour are controlled by two
different genes respectively. The two cats gave birth to
Cross I Cross II four kittens which had long black fur.
Parents Normal wing female Cut wing female
× Cut wing male × Normal wing male 7. Which of the following conclusions can be drawn
based on the above case?
F1 12 normal wing females 11 normal wing females
11 normal wing males 11 cut wing males (1) Long fur is dominant over short fur.
F2 71 normal wing females 32 normal wing females (2) The four kittens have the same genotype for fur
34 normal wing males 33 cut wing females length and fur colour.
35 cut wing males 36 normal wing males
38 cut wing males (3) The genes controlling fur length and fur colour
are located on different chromosomes.

5. Which of the following observations from Cross I A. (1) and (2) only
best supports the conclusion that normal wing is B. (1) and (3) only
the dominant phenotype?
C. (2) and (3) only
A. All the F1 individuals are normal wing.
D. (1), (2) and (3)
B. The ratio of normal wing individuals to cut wing
HKDSEE Biology 2018 Paper 1 Section A Q12
individuals in F2 is 3:1.
C. There are more normal wing individuals than
cut wing individuals in the F2. 8. After the kittens had grown up, they interbred and
gave birth to the second filial generation (F2).
D. Normal wing males are more or less the same
Among the F2 kittens, there was one with short
in number as cut wing males in the F2.
white fur. Which of the following processes most
HKDSEE Biology 2014 Paper 1 Section A Q10 likely contributed to the occurrence of this new
phenotype?

6. From Cross II, we can conclude that (1) Mutation

A. the gene for the wing shape is located on the (2) Random fertilization of gametes
X-chromosome because the cut wing (3) Independent assortment of chromosomes
phenotype was passed from the female parent
to the F1 males. A. (1) and (2) only

B. the law of independent assortment was B. (1) and (3) only

demonstrated because new phenotypes, C. (2) and (3) only
including normal wing females and cut wing
males, were found in F2. D. (1), (2) and (3)

C. the normal wing male parent is heterozygous HKDSEE Biology 2018 Paper 1 Section A Q13
because four combinations of phenotypes were
observed in F2.
D. the gene for the wing shape is located on an
autosome because a ratio of 1:1:1:1 was shown
in F2.
HKDSEE Biology 2014 Paper 1 Section A Q11

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26 Basic genetics

Section 26.4 11. Which cross(es) can be used to deduce which

phenotype is dominant?
9. In humans, blood group B is dominant to blood
group O. In a family, the father and mother are of A. cross Y only
blood groups O and B respectively. They have two B. cross Z only
children who are of blood group B. The father
concludes that his wife must be homozygous for C. crosses X and Y only
blood group B. Is this conclusion correct? D. crosses X and Z only
A. No, because there are other blood groups HKDSEE Biology 2013 Paper 1 Section A Q15
besides blood groups B and O.
B. No, because even if the mother is
12. What are the probable genotypes of individuals 1
heterozygous, each child has a 50% chance to
and 2?
be of blood group B.
C. Yes, because the father has no allele for blood Individual 1 Individual 2
group B, all alleles for blood group B must A. homozygous homozygous
have come from the mother. B. homozygous homozygous or
D. Yes, because if the mother is heterozygous, one heterozygous
child should be of blood group B and the other C. homozygous or homozygous
should be of blood group O. heterozygous
HKDSEE Biology 2017 Paper 1 Section A Q8 D. homozygous or homozygous or
heterozygous heterozygous

10. Suppose a woman is a carrier of an X-linked HKDSEE Biology 2013 Paper 1 Section A Q16
recessive genetic disease. If her husband has the
disease, what will be the chance that their first child
is a girl who has the disease? 13. If individuals 3 and 4 are twins, which of the
following conclusions can be drawn?
A. 0%
B. 25% A. They are developed from the same fertilized
egg.
C. 75%
B. They are developed from different fertilized
D. 100% eggs.
C. They are genetically different for characters
Directions: Questions 11 to 13 refer to the pedigree displaying continuous variation.
below, which shows the inheritance of a certain trait D. They are genetically different for characters
controlled by a pair of alleles located on an autosome displaying discontinuous variation.
(i.e. non-sex chromosome):
HKDSEE Biology 2013 Paper 1 Section A Q17
cross X
P 1
Key:
normal female Section 26.5
cross Y
F1 2 affected female 14. Variation in skin colour exists among different
human races. Which of the following factors plays
cross Z normal male the major role in determining this variation?
F2
affected male A. exercise
B. nutrition
F3
3 4 C. inheritance
D. exposure to sunlight
HKDSEE Biology 2015 Paper 1 Section A Q16

26- 53
 26 Basic genetics

Short questions
Section 26.2
15. DNA is the genetic material of human cells. The figure below shows the structure of part of a DNA molecule.

Answer
(a) (i) Describe where DNA is found in a human cell. (2 marks)
(ii) When a cell divides by mitosis the new cells are genetically identical. What causes the cells to be
Answer
genetically identical? (1 mark)
(b) Many genes have different forms called alleles.
(i) A person has polydactyly (extra fingers or toes). Polydactyly is caused by a dominant allele. What is the
smallest number of copies of the dominant allele for polydactyly that could be found in a body cell of this
Answer
person? (1 mark)
(ii) Another person has cystic fibrosis. Cystic fibrosis (CF) is caused by a recessive allele. How many copies
of the recessive CF allele are there in a body cell of this person? (1 mark)Answer

AQA GCSE Biology Unit 2 (Higher) Jun 2015 Q3(a)–(b)

Section 26.3
16. Maize plants reproduce sexually to form maize cobs. Each maize cob has many seeds. The colour of the seeds is
controlled by a gene. This gene has two alleles, one for purple seeds and the other for yellow seeds. In a crossing
experiment, pollen grains from one maize plant were transferred to the female flowers of another maize plant. The
diagram below shows a maize cob resulted from such a cross.
purple seeds
yellow seeds

(a) A student counted 260 purple seeds and 86 yellow seeds on this maize cob.
Answer
(i) What is the approximate ratio of purple seeds to yellow seeds on the cob? (1 mark)
Answer
(ii) Without using a genetic diagram, deduce the genotypes and phenotypes of the parent plants. (4 marks)
(b) If maize plants grown from two yellow seeds were crossed, what colour(s) of seeds would occur on the resulting
Answer
cobs? Explain your answer. (2 marks)

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 26 Basic genetics

Section 26.4
25
26
17. Roger is found to be suitable for donating blood to recipients with blood types different from his own. However, he
cannot receive a blood transfusion from his parents. The blood types of his father and mother are A and B respectively.

(a) What is Roger’s blood type? (1 mark)

(b) Given that:
IA represents the allele for producing antigen A on the surface of red blood cells
IB represents the allele for producing antigen B on the surface of red blood cells
i represents the allele that does not lead to the production of any antigens on the surface of red blood cells
(i) Using the above symbols, state Roger’s genotype. (1 mark)
(ii) Using the above symbols, state the genotypes of his parents. (2 marks)

 (c) Explain why Roger cannot receive blood transfusions from his parents. (3 marks)

HKDSEE Biology 2015 Paper 1 Section B Q4

18. The fruit fly, Drosophila melanogaster, is ideally suited for genetic investigations and has been widely used for this
purpose for many years.

The normal eye colour in Drosophila is red but a white-eyed form exists. In the genetics of eye colour, red eye (R) is
dominant to white eye (r) and the inheritance of eye colour is sex linked (in a similar way to sex linked conditions in
humans).

(a) State the genotypes of:

• a male with red eyes
Answer
• a female with white eyes (2 marks)
(b) In a particular cross, a red-eyed female was crossed with a red-eyed male. The offspring produced are shown in
the following table.

Red eyes White eyes

Males 48 53
Females 102 0
Answer
Using a genetic diagram, explain the outcome of this cross. (3 marks)

CCEA GCE AL Biology Assessment Unit A2 2 June 2015 Q7

Structured questions

Section 26.3
19. In mice, the allele for black fur (B) is dominant to that for brown fur (b). Two black mice (the parent generation)
mated and produced F1 offspring that were all black. When the mice in the F1 generation mated among themselves,
both black and brown offspring were produced in the F2 generation.

(a) Based on the fur colours of the F1 and F2 generations, state the probable genotype(s) of the mice in the F1
Answer
generation. (2 marks)
(b) Use a genetic diagram to show how mating between the mice in the F1 generation produced the brown mice in
Answer
the F2 generation. (3 marks)
(c) (i) State the probable genotype(s) of the black mice parents. (2 marks)Answer
(ii) Suggest a breeding experiment to confirm the genotype of each parent and explain how it works.
Answer
(3 marks)

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 26 Basic genetics

20. The table below lists some significant historical developments in the knowledge of heredity.

Year Scientist(s) Observation / Finding

12
26 1850s Most scientists The characteristics of offspring showed a blend of their parents’
characteristics resulting in variations

1865 Gregor Mendel Hybrids of pea plants showed either one of a pair of contrasting
characteristics of the two parents without blending

1902 Walter S. Sutton In grasshopper cells, chromosomes showed changes during

gamete formation

(a) Using modern terms of genetics, state the type of variation corresponding to the ideas held by most scientists in
1850s and Mendel. (2 marks)
(b) Based on his findings, Mendel proposed some postulates regarding the inheritance of characteristics. However,
his postulates were ignored by the scientific community of his time. These postulates were given more attention
several decades later as a result of Sutton’s observation.
(i) Complete the table below to show how the changes of chromosomes during gamete formation correlate with
Mendel’s postulates on inheritance. (3 marks)

Changes of chromosomes during

Mendel’s postulates
gamete formation
Characteristics are controlled by pairs of factors

Members of the paired factors separate from each other

during gamete formation

Each gamete receives one member of the paired factors

(ii) How did Sutton’s observation contribute to Mendel’s postulates? (1 mark)

(c) Suggest one of the technological advancements between 1865 and 1902 that enabled Sutton to observe
chromosomes during gamete formation. (1 mark)

HKALE Biology 2009 Paper 1 Q6

Section 26.4
21. Colour blindness is an X-linked recessive genetic disorder. The pedigree below shows the inheritance of colour
blindness in a family:
16
26
Key:
1 2
female with normal colour vision

? male with normal colour vision

3 4 5 6 7 female with colour blindness
Daisy David
male with colour blindness

8 9 10 11 12

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 26 Basic genetics

(a) Colour blindness is due to the abnormal development of photoreceptors. State the relevant type of photoreceptors
and the location inside the eyeball where these photoreceptors are most abundant. (2 marks)
(b) Given that the dominant allele of colour vision is represented by R while the recessive allele is represented by r,
determine all the possible genotypes and phenotypes of the offspring of individuals 1 and 2 using a genetic
diagram. (Note: Punnett square is not accepted) (5 marks)

(c) Draw all possible representation(s) for individual 4 with reference to the key of the pedigree. (1 mark)

(d) Daisy (individual 6) has recently given birth to a baby girl. Since one of her sons suffered from colour blindness
(individual 12), Daisy worried that their daughter would have colour blindness too. David (individual 7) reassured
her by saying that:

Don’t worry. Our daughter will be fine because I have normal colour vision!

Justify David’s claim. (Note: Marks will not be awarded for genetic diagrams.) (5 marks)

HKDSEE Biology 2016 Paper 1 Section B Q10

26 22. Red-green colour blindness is an X-linked recessive trait in humans. Peter is red-green colour blind while his daughter,
27 Mary, is normal.

(a) Deduce Mary’s genotype without using a genetic diagram. (4 marks)

(b) Mary is an expectant mother. The photomicrograph below shows the karyotype of her foetus:

1 2 3 4 5

6 7 8 9 10 11 12

13 14 15 16 17 18

19 20 21 22 23

 (i) From the photomicrograph, can we deduce whether this foetus will be red-green colour blind or not?
Explain your answer. (2 marks)
(ii) Is the foetus a boy or a girl? Explain your answer with reference to the photomicrograph. (3 marks)

HKDSEE Biology 2013 Paper 1 Section B Q4

23. Albinism is a genetic disorder in which a person lacks the pigment melanin in their skin, hair and the irises of their
eyes. A person with this disorder is called an albino. Albinism is determined by a pair of alleles. The pedigree below
shows the inheritance of albinism in a family.

I Key:
1 2 3 4
normal female

normal male
II
5 6 7 8 9 albino female

albino male
III
10

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 26 Basic genetics

(a) Is the allele for albinism caused by a dominant or a recessive allele? Explain your answer. (Marks will not be
Answer
awarded for genetic diagrams.) (5 marks)
Answer
(b) (i) Explain the meaning of the term ‘sex-linked’. (1 mark)
Answer
(ii) Using information in the pedigree, explain why the inheritance of albinism is not sex-linked. (4 marks)
(c) Suppose individuals 7 and 8 are going to have a second child. What will be the chance of this child being
Answer
albino? (1 mark)

Section 26.5
24. (a) In 1940, scientist Alfred Sturtevant hypothesized that the ability to roll one’s tongue is determined by a single
gene. His hypothesis was based on the data below:

Case Characters of parents Tongue rolling offspring Non-tongue rolling offspring

I tongue rolling × tongue rolling 28 5

II tongue rolling × non-tongue 33 22

rolling

(i) Does the trait of tongue rolling ability show continuous or discontinuous variation? Explain your answer.
(2 marks)
(ii) Sturtevant concluded that tongue rolling is the dominant phenotype while non-tongue rolling is the
recessive phenotype. With reference to the above table, explain how he arrived at this conclusion.
(2 marks)
(b) In 1965, the offspring of a group of non-tongue rolling parents were studied. It was found that more than 30% of
the offspring were tongue rollers. Does this finding support Sturtevant’s conclusion in (a)(ii)? Explain your
answer. (2 marks)
(c) In 1971, another study on identical twins was carried out to further explore the factors influencing the tongue
rolling trait. The results are summarized in the chart below:

both twins were

non-tongue
rolling both twins were
11%
tongue rolling

one was tongue rolling 18%

and the other was
non-tongue rolling
71%

(i) What is the advantage of using identical twins as the subjects for the study? (2 marks)
(ii) With reference to the above chart, complete the following table with data that support the conclusions.
(2 marks)

Conclusion Evidence
Genetic factors play a significant role in the
determination of the tongue rolling trait.

There are other factors influencing the tongue

rolling trait.

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 26 Basic genetics

(d) (i) In the above case regarding the development of knowledge about the inheritance of the tongue rolling trait,
which of the following ideas about science is demonstrated? (2 marks)

Ideas about science Put a ‘’ in the appropriate spaces below

Science is a process of ongoing inquires.

Science is affected by social and cultural factors.

Scientists may not arrive at the same conclusions

about the same set of data.

Scientific investigations may not require doing

experiments in laboratories.

(ii) Elaborate on how the development of knowledge about the inheritance of the tongue rolling trait can be used
to demonstrate that scientists have to be open-minded. (1 mark)

HKDSEE Biology 2017 Paper 1 Section B Q10

Essay

Section 26.5
25. Describe the differences between continuous and discontinuous variations. Discuss the effects of genetic and
Answer
environmental factors on the two types of variation with suitable examples. (11 marks)

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