D 3.

2 Inheritance

“What patterns of inheritance exist in plants and animals?”

“What is the molecular basis of inheritance patterns?”

Learning Objectives
Production of haploid gametes in parents Students should understand that this pattern of inheritance is common to all
D3.2.1 and their fusion to form a diploid zygote eukaryotes with a sexual life cycle. They should also understand that a diploid
cell has two copies of each autosomal gene.
as the means of inheritance
Use the terms “P generation”, “F1 generation”, “F2 generation” and “Punnett
grid”. Students should understand that pollen contains male gametes and that
female gametes are located in the ovary, so pollination is needed to carry out a
Methods for conducting genetic crosses in
D3.2.2 cross. They should also understand that plants such as peas produce both male
flowering plants and female gametes on the same plant, allowing self-pollination and therefore
self-fertilization. Mention that genetic crosses are widely used to breed new
varieties of crop or ornamental plants.

Genotype as the combination of alleles Students should use and understand the terms “homozygous” and
D3.2.3 “heterozygous”, and appreciate the distinction between genes and alleles.
inherited by an organism
Phenotype as the observable traits of an Students should be able to suggest examples of traits in humans due to
D3.2.4 organism resulting from genotype and genotype only and due to environment only, and also traits due to interaction
between genotype and environment.
environmental factors
Students should understand the reasons that a homozygous-dominant
Effects of dominant and recessive alleles
D3.2.5 genotype and heterozygous genotype for a particular trait will produce the
on phenotype same phenotype.

Phenotypic plasticity as the capacity to Phenotypic plasticity is not due to changes in genotype, and the changes in
develop traits suited to the environment traits may be reversible during the lifetime of an individual.
D3.2.6
experienced by an organism, by varying
patterns of gene expression
Phenylketonuria (PKU) is a recessive genetic condition caused by mutation in
Phenylketonuria as an example of a
D3.2.7 an autosomal gene that codes for the enzyme needed to convert phenylalanine
human disease due to a recessive allele to tyrosine.

Single-nucleotide polymorphisms and Students should understand that any number of alleles of a gene can exist in
D3.2.8 the gene pool but an individual only inherits two.
multiple alleles in gene pools
Learning Objectives
ABO blood groups as an example of multiple Use I^A, I^B and i to denote the alleles.
D3.2.9
alleles
Students should understand the differences between these patterns of
inheritance at the phenotypic level. In codominance, heterozygotes have a
dual phenotype. Include the AB blood type (IAIB) as an example. In
D3.2.10 Incomplete dominance and codominance incomplete dominance, heterozygotes have an intermediate phenotype.
Include four o'clock flower or marvel of Peru (Mirabilis jalapa) as an
example.
Students should understand that the sex chromosome in sperm determines
Sex determination in humans and whether a zygote develops certain male-typical or female-typical physical
D3.2.11 characteristics and that far more genes are carried by the X chromosome
inheritance of genes on sex chromosomes
than the Y chromosome.

Haemophilia as an example of a sex-linked Show alleles carried on X chromosomes as superscript letters on an

D3.2.12 uppercase X.
genetic disorder
Pedigree charts to deduce patterns of Students should understand the genetic basis for the prohibition of
D3.2.13 marriage between close relatives in many societies.
inheritance of genetic disorders
Use skin colour in humans as an example. Students should understand the
Continuous variation due to polygenic distinction between continuous variables such as skin colour and discrete
D3.2.14 variables such as ABO blood group. They should also be able to apply
inheritance and/or environmental factors
measures of central tendency such as mean, median and mode.
Students should use a box-and-whisker plot to display six aspects of data:
Box-and-whisker plots to represent data for outliers, minimum, first quartile, median, third quartile and maximum. A
D3.2.15
a continuous variable such as student height data point is categorized as an outlier if it is more than 1.5 × IQR
(interquartile range) above the third quartile or below the first quartile.

Production of haploid gametes in parents

….and their fusion to form a diploid zygote as the means of
inheritance

In a sexual life cycle,

parents pass genes to
offspring in gametes. This
is the basis of inheritance.

https://www.khanacademy.org/science/biology/cellular-molecular-biology/meiosis/a/sexual-life-cycles
Production of haploid gametes in parents
The gametes which are formed through meiosis in male and female
reproductive organs, are haploid, while the zygote – as a result of fertilization
– is diploid. The haploid gamete contains only one copy of each gene.
Three chromosomes with
one copy of an autosomal
chromosome. In humans,
a male sperm cell has 23
chromosomes.

Production of haploid gametes in parents

….and their fusion to form a diploid zygote as the means of
inheritance
When male and female
gametes fuse, their
nuclei join, doubling the
chromosome number.
The nucleus of the
zygote contains two
chromosomes of each
type, so is diploid. It
contains also two
alleles of each gene.

Each gamete gets one copy with a unique combination of alleles.

Methods for conducting genetic crosses in flowering plants

Peas have clear characteristics such as red or

white flower colour that can be easily followed
down from one generation to the next. They
can also be crossed to produce hybrids or
allowed to self-pollinate because they grow
male and female flowers on the same plant.

Methods for conducting genetic crosses in flowering plants

Mendel established pea lines with two different forms of a
feature, such as yellow and green peas. He grew these lines
for generations until they were pure breeding (always
produced offspring identical to the parent), then bred them
to each other and observed how the traits were inherited.

https://youtu.be/cWt1RFnWNzk

Through careful observation and counting he deduced

that genes come in pairs called alleles, and that features
such as dominant and recessive traits, as well as exact
ratios of outcomes in the F1 and F2 generations.
Genotype as the combination of alleles in an organism
Gregor Mendel was the first scientist who coined the term “hereditary factor” and
demonstrated with his pea-crossings the existence of two versions for each
hereditary factor. The modern term for the factor is “gene” and the versions
“alleles”.
GENE ALLELE

A gene is a heritable factor that An allele is an alternative version of a

consists of a length of DNA and gene that differs by one or a few bases
influences a specific characteristic. and occupies the same locus (position)
Genes are made of DNA. Each on a chromosome. (e.g. different flower
chromosome contains several genes. colors like purple or white).

Genotype as the combination of alleles in an organism

Gregor Mendel’s crosses with pea plants were the first to reveal the
basic pattern of inheritance. From these genetic crosses, Mendel was
able to state the Law of Segregation. http://www2.estrellamountain.edu/faculty/farabee/Biobk/meiogam.gif

The law of segregation states

that only one of the two gene
copies present in a diploid
organism is distributed to
each gamete (egg or sperm
cell, pollen) that it makes
during meiosis.
Genotype as the combination of alleles in an organism

If two copies of one allele of a gene

http://www2.estrellamountain.edu/faculty/farabee/Biobk/meiogam.gif
is present (e.g. SS), which allele will
each gamete receive?

If two different alleles are present

(Pp), what percentage of haploid
nuclei receive the allele P, and
how man p?

Genotype as the combination of alleles in an organism

Every organism inherits two alleles from their parents during
reproduction. The combination of the two alleles present in a
homologous pair of chromosomes can be homozygous or heterozygous.
Homozygous is when HOMOZYGOUS
there are two identical
alleles (represented by
A A
two identical letters) of a a
a gene. E.g AA is
homozygous dominant
and aa is homozygous
recessive for a trait.
HETEROZYGOUS

Heterozygous is when an
A a
individual inherits two different
alleles of a gene, represented
by two different letters. e.g Aa
Genotype as the combination of alleles in an organism
In his crosses, Mendel also noticed that one
DOMINANT AND RECESSIVE
version of the gene (allele) can mask the
effect of another the other one and
basically make it “disappear” in the F1
generation. In his cross the yellow color was
therefore dominant and green is recessive.

A dominant allele is an allele

which has the same effect on
the phenotype whether it is
present in homozygous or
heterozygous state.

A recessive alleles is an allele

that has an effect on the
phenotype only when present
in the homozygous state.

Genotype as the combination of alleles in an organism

From the combination of alleles in an individual we can determine the genotype

GENOTYPE

The genotype is the genetic makeup of the organism and codes for
the phenotype. It is usually the symbolic representation of a pair of
alleles possessed by an organism, typically represented by two
letters. Examples: Bb, aa, PP
Genotype as the combination of alleles in an organism
Draw a homologous chromosome and include the following structures:
Gene, allele, homozygous, heterozygous, dominant, recessive, genotype, phenotype

Phenotype as the observable traits of an organism

….resulting from genotype and environmental

https://onlinelibrary.wiley.com/doi/abs/10.1111/ics.12467
factors
The phenotype of an organism is its observable
traits or characteristics. These traits are due to
the interaction between genotype of an
organism and environment in which it exists.

PHENOTYPE

These are the physical

characteristics and traits
of an organism – the
ones we can see. e.g.
eyecolor, hair colour, etc.
Phenotype as the observable traits of an organism
….resulting from genotype and environmental
factors
Try to group the following traits into the correct category and
decide if they are determined by genotype only, environment
interacting with genotype of environment only:
Body height, haemophilia, scars due to surgery, hair color, blood group, diabetes, tatoos,
autism, eye color, weight, skin color, ability to taste bitterness, intelligence, language, voice

Genotype only Environment interacting Environment only

with genotype

Phenotypic plasticity as the capacity to develop traits

…suited to the environment experienced by an organism, by varying patterns of gene
expression
Phenotypic plasticity occurs when organism change their gene
expression pattern of proteins in order to become adapted to specifc
environmental conditions. This change is reversible, as the genetics (the
https://www.frontiersin.org/articles/10.3389/fgene.2019.00720/full

alleles) themselves remain unchanged.

Drosophila melanogaster (fruit fly) and B. anynana (butterfly) show plasticity

in different temperatures by reducing body size and pigmentation.

Many other examples of animals or plants show phenotypic plasticity in response to

light availabilities, absence or presence of predators (e.g. water flea), availability of
nutrients (e.g. plants have a differential allocation of biomass in roots).
Effects of dominant and recessive alleles on phenotype
Practice questions
1. In a species of plant, flower color can be red or white. Heterozygous plants have red flowers.
Choose suitable symbols for the alleles of the flower color gene:

2. Which allele is dominant, and which is recessive? Explain how you worked this out.

3. Write down all the possible genotypes for flower color in this plant and the phenotypes they
will produce.
a. In cats, the allele (S) for short fur is dominant to the allele (s) for long fur.

b. What is the genotype of a true-breeding, long-furred cat?

c. What is the phenotype of a cat with the genotype Ss?

d. In an Ss genotype, which allele is expressed in the phenotype?

e. Which of the following genotypes is (i) heterozygous (ii) homozygous dominant?

SS, Ss, ss

Effects of dominant and recessive alleles on phenotype

When a dominant allele is present it masks the effects of the
recessive allele.
https://learn.genetics.utah.edu/content/basics/ptc

Can you taste

bitterness?
Take the two test strips
provided by your teacher
and follow the instructions.

The ability to taste PTC shows a dominant

pattern of inheritance. A single copy of a tasting
allele (T) conveys the ability to taste PTC.
Non-tasters have two copies of a non-tasting
allele (t).
 Phenylketonuria as an example of a human disease
…due to a recessive allele

https://www.britannica.com/science/phenylketonuria
Phenylketonuria is a genetic
disease which is caused by a
recessive allele of a gene.

Screening for PKU takes place at birth by performing

http://illustratedmedicine.blogspot.com/2010/09/

a heel prick test. If PKU is diagnosed, affected

children are given a diet low in phenylalanine.

The disease will only develop if

two copies of the recessive allele
are inherited. If heterozygous, the
person is called a carrier.

Phenylketonuria as an example of a human disease

https://ib.bioninja.com.au/options/option-d-human-physiology/d1-human-nutrition/amino-acids.html
due to a recessive allele

Phenylketonuria is caused by a mutation of the gene on chromosome 12 coding for

the enzyme phenylalanine hydroxylase. This enzyme breaks down the essential
amino acid phenylalanine into tyrosine. Without the enzyme, phenylalanine builds
up – high levels causes disruptions with neurotransmitters in the brain. Both amino
acids are needed for protein synthesis in cells. Boys and girls are equally affected.
Phenylketonuria as an example of a human disease
….due to a recessive allele

Without the
functional enzyme
(PAH) phenylalanine
accumulates and

https://www.hbely.com/work/pkuposter
leads to
developmental
problems, brain and
mental disorders.

Methods for conducting genetic crosses in flowering plants

To study patterns of inheritance Punnett
grids can be used.
The content of the grids
show all possible outcomes
of a cross between the
genotypes of a specific
monohybrid parent
generation (P), using
The female
genotype letters.
and male
haploid
gametes
(with
genotypes) The possible diploid
are written outcomes (offspring)
on opposite recorded within the square
sides. to show the F1 (first filial) or
F2 (second filial generation).
Effects of dominant and recessive alleles on phenotype

https://www.agcanada.com/daily/green-peas-regain-premium-over-yellows
Using a punnet grid, show a cross between a
purebreeding (homozygous) recessive green
(yy) and a purebreeding (homozygous)
dominant yellow (YY) parent plant.

P (Parent generation)
Phenotype:
Genotype:
Alleles of gametes:

Effects of dominant and recessive alleles on phenotype

Using the same notation, perform a cross the F1 (first filial generation)
of the previous example using the same notation.
Incomplete dominance and codominance
Previous understanding: A dominant allele (R) is one that has an effect
on the phenotype when combined with a recessive one (Rr), while the
recessive one only will have an effect only when homozygous (rr). In
codominance neither of the alleles are masked by the other.

In codominance, both alleles

are expressed independently
in the phenotype and are
uniquely recognizable. E.g. red
cows crossed with white will
generate roan cows. Roan
refers to cows that have red
coats with white blotches.

Incomplete dominance and codominance

In incomplete dominance the
CW CW action of one allele does not
CR CR completely mask the action of
the other and neither allele has
CR CW dominant control over the trait.
The heterozygous offspring is
intermediate phenotype and This i
CR CW shows a “blending” of features. hypo
red or

When red snapdragons are crossed with white ones, the

CR CW F1 hybrids have pink flowers. Segregation of alleles into
gametes of the F1 plants results in an F2 generation with
a 1:2:1 ratio for both genotype and phenotype.

CR CR

CW CR CR CW
CR CW CR CW

CW CW
Mirabilis jalapa – an example for incomplete dominance
Incomplete dominance and codominance
Practice question:

In snapdragons, red flower colour (CR) is incompletely dominant

over white flower colour Cw). The heterozygous plants have pink
flowers.
a. If a red-flowered plant is crossed with a white-flowered plant, what are the genotypes and
phenotypes of the plant of the F1 generation?

b. What genotypes and phenotypes can be produced in the F2 generation?

Incomplete dominance and codominance

Practice question:
2. A red cow has a pair of alleles for red hairs. A white bull has a pair of alleles for white hairs.
If a red cow and a white bull are mated, the offspring are all “roan”, i.e. they have red and
white hairs equally distributed over their body. Is this an example of co-dominance or
incomplete dominance? Explain.

3. A variety of Pelargonium has yellow leaves. When plants of this variety are crossed, the
resulting seeds produce green, yellow and white seedlings in the ratio 1 : 2 : 1. If plants
with yellow leaves are crossed with plants with green leaves, what would the expected
ratio of phenotypes in the offspring be?
Incomplete dominance and codominance
Practice question:
2. A red cow has a pair of alleles for red hairs. A white bull has a pair of alleles for white hairs.
If a red cow and a white bull are mated, the offspring are all “roan”, i.e. they have red and
white hairs equally distributed over their body. Is this an example of co-dominance or
incomplete dominance? Explain.

3. A variety of Pelargonium has yellow leaves. When plants of this variety are crossed, the
resulting seeds produce green, yellow and white seedlings in the ratio 1 : 2 : 1. If plants
with yellow leaves are crossed with plants with green leaves, what would the expected
ratio of phenotypes in the offspring be?

Incomplete dominance and codominance

Practice question:

4. Andalusian fowl have varied colours and types of feathers. The allele for black
feathers is codominant with the allele for white, producing blue feathers in
the heterozygote. The texture of feathers is controlled by another gene, with
silky feathers recessive to normal. Blue silky birds are crossed with black silky
birds. What is the expected proportion of blue silky offspring?

A. 0%
B. 25%
C. 50%
D. 100%
Incomplete dominance and codominance

Single-nucleotide polymorphisms & multiple alleles

…in gene pools
A gene pool refers to the genes of all the individuals in a sexually reproducing
population. Because only one copy of an allele can exist on each chromosome,
an individual can only inherit two alleles rather than the full number available in
the gene pool. A gene pool typically contains many different alleles of a gene due
to the existence of multiple alleles, often caused by SNPs.

https://www.bjupress.com/resources/images/biology/large/unit1/06b.01_gene-pool.jpg
 Single-nucleotide polymorphisms & multiple alleles
…in gene pools

https://eu.idtdna.com/pages/education/decoded/article/genotyping-terms-to-know
If there is a
difference of one
single nucleotide
(Single nucleotide
polymorphism,
SNP) between two
DNA sequences an
alternative version
of a gene (allele)
can be created.

In a gene pool many different version of a gene exist, because even within one
gene the e.g. nucleotide G could change to A, or C, or T. In addition, there can
be many different positions with SNPs - therefore there can be multiple alleles
of any gene, even though only two alleles are inherited by an individual.

Single-nucleotide polymorphisms & multiple alleles

…in gene pools
Some genes don`t only have two alleles but three, four, five or even more than
that. With multiple alleles, that means there is more than two phenotypes
available depending on the dominant or recessive alleles that are available in the
trait. Multiple alleles can be dominant, recessive or co-dominant to each other.
Examples of phenotypes expressed by genes with multiple alleles:
http://f.tqn.com/y/evolution/1/S/O/4/-/-/462845055.jpg

The pigmentation
responsible for fur color
in rabbits and other
animals is caused by
multiple alles, as is eye
color, hair color or blood
groups in humans.
Single-nucleotide polymorphisms & multiple alleles
…in gene pools
Read the article and answer the
questions:
What percentage (%) of individuals in the general
population need to have a single nucleotide
substitution in order to be officially classified as a SNP?

Why is it useful for scientists to identify https://learn.genetics.utah.edu/content/precision/snips/

SNPs in the human genome?

Are all SNPs found within the coding region of a gene?

Point mutations (base-substitution mutations) can also be caused by SNPs, but not all SNPs
result in a disease causing mutation. Explain this statement:

ABO blood groups as an example of multiple alleles

The human ABO blood group illustrates the genetic
phenomenon of codominance and multiple alleles.

Red blood cells carry

different surface
proteins on their cell
membrane,
depending on
whether they have
the phenotype A or B.
 ABO blood groups as an example of multiple alleles
The I gene (and all of its 3 alleles IA, IB and i) codes for the
production of glycoproteins on the membranes of red blood cells.

i IA IB

Acetylgalactosamine Galactose

The allele i is The allele IA codes for one IB alters the

recessive and only type of glycoprotein it by glycoprotein by addition
codes for the basic adding one type of sugar of another type of sugar
glycoprotein. (Acetylgalactosamine) (Galactose).

ABO blood groups as an example of multiple alleles

The blood types (phenotypes) and their corresponding
genotypes can therefore be summarized using this notation:
Genotyp
Antibodies in
e Phenotyp
the plasma
notation e
I AI A A Antibodies against type B

• Individuals with the phenotype AB (IAIB ) will express both proteins on

their cell surface (codominance) so an AB individual will produce neither
antibody on the cell surface
nance • Individuals with IAi or IBi will have the same phenotype as do IAIA and IBIB,
zygous respectively.
ssive
• Individuals with ii will have bloodgroup O
• Antibodies to these proteins are made if either of the alleles is absent.
ABO blood groups as an example of multiple alleles
1. Which of the following blood group phenotypes always has a homozygous
genotype?
A. A
B. B
C. AB
D. O

2. A child has the blood group A. Which possible genotypes could the father have if the
mother was bloodgroup O?

3. A couple have four children whose blood groups are A, B and AB. What is the likely
combination of the parents’ genotypes?
A. IAi and IBi
B. IAi and IBIB
C. IAIB and ii
D. IAIA and IBIB

ABO blood groups as an example of multiple alleles

4. Two women gave birth in the same hospital on the same afternoon. Their babies were taken
away, and then brought back to them one hour later. One of the women was worried that she
had been given the wrong baby. She asked for the blood test to be carried out. The hospital found
that she was group A and her husband was group O. The other mother was group AB and her
husband was group A. The woman with blood group A had been given the baby with blood group
O. The woman with group AB was given the baby with blood group B. Explain whether the
women had been given the right babies and use a genetic diagram to support your answer.
 Sex determination in humans
In a karyogram, chromosomes
can be grouped into autosomes
and sex chromosomes. 22 out of
the 23 chromosomes are
autosomes. The final pair is not
numbered but labeleled X and Y.

Females only have XX

chromosomes, the haploid
gametes produced from that
therefore only carry an X
chromosome after meiosis.

Males only have XY

chromosomes, the gametes
produced from that therefore
contain X and Y chromosomes.

Sex determination in humans

http://www.womantospecial.com/wp-content/uploads/female-male.jpg

During fertilization there is

therefore an even chance of the
offspring being male or female.

Egg cells produced by meiosis all carry an X

chromosome, but 50% of sperm carry a Y
chromosome. At fertilization an egg fuses with a
sperm carrying an X chromosome leading to a
female offspring. If fusing with a sperm carrying
a Y chromosome it leads to a male offspring.
 Sex determination in humans
The sex chromosomes carry many genes that are essential in both males and

https://62e528761d0685343e1c-f3d1b99a743ffa4142d9d7f1978d9686.ssl.cf2.rackcdn.com/files/62610/area14mp/bv9fpsk3-1414040470.png
females, and these genes are inherited together with the sex of the individual.
However, the X and Y chromosomes are different in structure & function:
http://jeanzin.fr/wp-content/uploads/2014/02/chromosomes-X-Y.jpg

The Y chromosome is smaller and contains less genes than the

X chromosome. Some genes are unique to Y chromosome
while some genes are shared with X chromosome.

One gene located on

the Y chromosome
is called the SRY (sex
determining region).

This gene causes the gonads of a

fetus to develop into testes of a male.

Sex determination in humans

The SRY gene on the Y
chromosome is responsible for
sexual determination. If the
embryo is XY, the presence of
the SRY gene will direct the
gonads to develop as testes.

In the absence of a Y
chromosome and SRY
gene, the gonads
develop as ovaries.

http://www.gender-baby.com/wp-content/uploads/2014/02/boy-and-girl1.jpg
 Sex determination in humans
Bipotential gonad The SRY gene causes the release
https://basicmedicalkey.com/wp-content/uploads/2016/11/images_00083.jpeg

female duct of the TDF (Testes Determining

(Muellerian) Factor) from the embryo. As a
Male duct (Wollfian) result, undifferentiated gonads
are turned into testes. Once
testes have formed, they
release testosterone.

Before the release of TDF,

the developing fetus has
two tiny structures, the
Muellerian and Wolffian
ducts, and two
small-undifferentiated
gonads, neither testes nor
ovaries.

Inheritance of genes on sex chromosomes: Sex-linkage

Genes which are located on a sex
chromosome are said to be sex-linked.
Typically, these genes are carried on the
X-Chromosome in the non-homologous
region.

Inheritance of these genes is different from the inheritance on autosomes

because the X chromosome is longer and carries more genes. Genes which
are present on the X-chromosome but lack a corresponding allele on the
shorter Y chromosome are said to be located in the non-homologous region.
Inheritance of genes on sex chromosomes: Sex-linkage
A carrier is a person
with a heterogeneous
genotype with a W
recessive allele of a c
gene that does not
have an effect on their
phenotype – they
carry the allele, but it
is not expressed.

With sex-linked traits, only a woman can be a carrier, because only

females have two X chromosomes where a recessive allele might be
masked by the dominant allele on the second chromosome.

Inheritance of genes on sex chromosomes: Sex-linkage

Duchene muscular dystrophy is a disease which is
caused by a defective gene located on the
non-homologous region of the X chromosome.
Individuals affected by the disease cannot produce
the protein dystrophin which is needed for muscle
contractions. Using a Punnett grid show a cross
between a female and an affected male to predict
the probability of an offspring inheriting the disease.
Haemophilia -an example of a sex-linked genetic disorder
Haemophilia is recessive and X-linked and results in a lack of clotting
factor being produced in blood plasma. This clotting factor is an essential
step in a metabolic pathway that stops bleeding following injury.

http://media.snimka.bg/s1/1894/030031169-big.jpg
Haemophilia - an example of a sex-linked genetic disorder

http://images.mid-day.com/images/2015/apr/hemophilia.jpg
The haemophiliac allele (Xh) is recessive
to the normal allele (XH). The gene is
located on the non-homologous region
of the X-chromosome.

▪ Haemophilia is more common in

men than in women.
▪ Males inherit the allele from their
mother and develop the disease
▪ Since (until recently) the prognosis
was poor such males did not
survive to pass on the allele to
their daughters (its on the
X-chromosome). Female
haemophilia would be rare.
Inheritance of genes on sex chromosomes: Sex-linkage
1. Can fathers, who are genotypic recessive for a sex-linked trait (XaY) produce male
children with a carrier woman? Explain, supporting your reasoning by use of a
punnett grid.

2. Predict the outcome of a cross between a hemophilic male and a carrier women:

Pedigree charts to deduce patterns of inheritance

Show patterns of inheritance in a family for a specific trait (phenotype).
Genotypes can usually be determined, and it allows the tracking of many
genetically inherited diseases (Haemophilia, Huntington`s disease,…). It also
allows to deduce whether an allele is recessive, dominant or sex-linked.

Of Queen Victoria's 26 offspring,

five grandsons had hemophilia and
four granddaughters were carriers.
Pedigree charts to deduce patterns of inheritance
Of Queen Victoria's 26
offspring, five grandsons had
hemophilia and four
granddaughters were carriers.

Carefully analyze the diagram above. What can you deduce about the pedigree of Queen Victoria?

Pedigree charts to deduce patterns of inheritance

In the human pedigree chart in the figure above state:

a who are the female grandchildren of Richard and Judith
b who are Rajesh’s (i) grandparents and (ii) uncles
c how many people in the chart have parents unknown to us
d the names of two offspring who are cousins.
Pedigree charts to deduce patterns of inheritance
Autosomal recessive Autosomal dominant:

For an autosomal recessive disorder two Males and females are equally affected. An
copies of an abnormal gene must be present affected parent always passes on the trait,
for the disease or trait to develop. If both irrespective of sex. If both parents are
parents are unaffected and an offspring is affected and the offspring is unaffected, the
affected, the trait must be recessive trait must be dominant. All affected
(parents = heterozygous). If both parents individuals must have at least one affected
show a trait, all offspring show the trait. parent. If parents are unaffected, offspring is.
Examples: Examples:
• Cystic fibrosis • Polydactyly
• Albinism • Huntington`s disease

Pedigree charts to deduce patterns of inheritance

X-linked recessive X-linked dominant

The disease is never passed from father to son, All daughters of a male parent who have
and overall males are much more likely to be the trait will also have the trait. Sons only
affected than females. All affected males in a inherit the trait if the mother carries the
family receive the affected allele from their defect allele on her X-chromosome, since
mother. X-linked recessive traits tend to show they inherit a Y-chromosome from the
a higher frequency in males. father. X-linked dominant traits show a
Examples: higher frequency in females.
– Colour-blindness –Examples:
– Duchenne Muscular Dystrophy – Vitamin D rickets
– Haemophilia – Fragile X syndrome
Inheritance of genes on sex chromosomes: Sex-linkage
X – linked recessive traits X-linked dominant traits

X linked recessive traits or conditions are caused X-linked dominant traits are caused by a
by recessive alleles which are the located on the dominant allele on the non-homologous
non-homologous region of the X chromosome. region of the X-chromosome. Males and
Males are more affected by the condition than females are affected likewise by the condition,
females, because in females the defect gene can because no matter what allele is found on the
be masked by a homologous gene on the second second chromosome, it would not be masking
X-chromosome. Hemophilia is an example for an the effects of the defect one. Examples:
x-linked recessive condition. Vitamin D rickets or fragile X-syndrome.

Pedigree charts to deduce patterns of inheritance

In the Arab world, marriages between close relatives is common practice:

https://cags.org.ae/en/gallery/details/12/infographics

The main concen of

consanguineous marriages is the
potential development of genetic
disorders in children. If two carriers
of the same defective gene marry,
their child will have a 25% chance
of inheriting both defective copies
and developing a disorder.

https://www.safeguardingcambspeterborough.org.uk/children-board/resources-for-practitioners/consanguinity/
Pedigree charts to deduce patterns of inheritance

https://cags.org.ae/en/gallery/details/12/infographics
Pedigree charts to deduce patterns of inheritance
Practice Questions
1.
Pedigree charts to deduce patterns of inheritance
Practice Questions
2.

Pedigree charts to deduce patterns of inheritance

Practice Questions
3.
Pedigree charts to deduce patterns of inheritance
Practice Questions
4.

Pedigree charts to deduce patterns of inheritance

Continuous variation due to polygenic inheritance
….and/or environmental factors
When only two pairs of genes are involved the frequency distribution can be
represented in a histogram or bar graph – data is referred to as discrete. With
three or four or more pairs of genes, the phenotype distribution begins to
resemble a bell-shaped curve and is now showing continuous variation.

When more than three alleles

contribute to inheritance it is
polygenic. Polygenic alleles are often
influenced by the environment.

https://technogeek2.files.wordpress.com/2013/06/skin-colors2.jpg
Continuous variation due to polygenic inheritance
….and/or environmental factors
Height is mostly determined genetically
but studies have shown that children
with a lower socioeconomic status or
children from large families often grow
slowly and thus are smaller and lighter
than children form privileged families.

Can you think of Height is a polygenic trait, determined

environmental factors
by at least 10 different genes.

affecting height?

https://www.sciencenews.org/article/why-screening-dna-designer-babies-probably-will-not-work
Continuous variation due to polygenic inheritance
….and/or environmental factors
Skin color is another example of
polygenic inheritance showing
continuous variation which is also
influenced by the environment.
Sunlight stimulates the
production of the black pigment
melanin in the skin which
increases protection against
harmful UV radiation in sunlight.

Continuous variation due to polygenic inheritance

….and/or environmental factors
Skin color is also an example of evolution in humans. Skin color &
pigmentation (amount of melanin) is correlated to the latitude from the
equator (and the decreasing intensity of UVB radiation through the
atmosphere)

Watch this Ted-Talk on the evolution of skin colour:

https://www.ted.com/talks/nina_jablonski_breaks_the_illusion_of_skin_color
Box-and-whisker plots to represent data
…for a continuous variable such as student height
Box and whisker plots are used to show
differences in the mean and range
(differences between maximum and
minimum value) of a series of data.

Data can be normally distributed (symmetrically ”bell” shaped) when plotting the
frequency against measurements, or non-normally distributed (with a positive or
negative skew). When data is normally not normally distributed medians and
quartiles are calculated to give a better understanding of the distrubution.

Box-and-whisker plots to represent data

…for a continuous variable such as student height