Inquiry Question 4

How can genetic similarities and

differences within and between
species be compared?
 • Conduct practical investigations to predict variations in the
genotype of offspring by modelling meiosis, including the crossing
over of homologous chromosomes, fertilisation and mutations

Genetic variation – The role of meiosis,

fertilisation and mutations

What is variation?
Genetic variation refers to different forms of
a gene within a population – the total of all
alleles present in the gene pool of a
population.
For example; eye colour in human
population includes brown, green, blue hazel
and grey colours.

Note: Gene pool = all genes in population of

a species
 How does variation arise?
1. During sexual reproduction through the processes of;
- Meiosis
- Fertilisation

Meiosis results in the recombination

of parental genes

Fertilisation is random and results

in a unique combination of maternal
and paternal genes

Both these processes randomly mix two sets of

parental chromosomes, resulting in individuals with
unique and varied genotypes.
2. Mutation
- may result in the formation of new alleles (possibly new trait)
 Meiosis – recap from Inquiry Q2

• Meiosis is sometimes called

‘reduction division’ because a
diploid cell divides into 4 haploid
daughter cells (gametes)
- reducing the chromosome
number by half.

• A diploid parent cell contains 2

sets of chromosomes – one
paternal and one maternal set.
• Each pair of chromosomes is
called a homologous pair – the
two chromosomes carry alleles
for the same genes.
 Genotypes in Meiosis
Every species has a characteristic number of chromosomes in every body cell e.g., 46
chromosomes in humans.
This number does not change from one generation to the next.
Meiosis maintains this constant chromosome number.
Meiosis is sometimes called ‘reduction division’ because a diploid cell divides into
four haploid daughter cells (gametes) reducing the chromosome number by half.
A diploid parent cell contains two sets of chromosomes – one paternal set and one
maternal set.
Each pair of chromosomes in the cell is termed a homologous pair. The two
chromosomes carry alleles for the same genes.

Draw a homologous pair of chromosomes at the start of

cell division (replicated)
Draw a homologous pair of chromosomes at the start of cell
division (replicated)

Use
different
colours

Maternal chromosome Each chromosome now consists of 2 sister

chromatids joined at the centromere.
Paternal chromosome
 Meiosis stages – complete the
annotations to revise

Biology in Focus 12
p154-155
Meiosis I
Meiosis II
 The genetic consequences of meiosis:
• One cell undergoes 2 meiotic divisions to produce 4 haploid
cells/gametes
• The genes in each gamete are a new combination of the
parental genes (variation)
• The new combination results from crossing over and random
segregation

HOW DOES CROSSING-OVER AND RANDOM SEGREGATION

DURING MEIOSIS RESULT IN VARIATION?

Homologous chromosomes
crossing-over during prophase I
 Variation Produced During Sexual
Reproduction
During MEIOSIS I
1. Chromosomes line up in homologous pairs – (one maternal and one
paternal) during metaphase I.
 2. CROSSING OVER
OCCURS AS FOLLOWS Copy
this
In crossing over, homologous chromosomes
exchange genetic material/genes.
Non-sister chromatids twist around each
other, split where they touch and join up
with the opposite chromosome.
The point at which they cross-over is called
chiasma (meaning ‘cross’)
So, as a result, the combinations of alleles
on the chromatids differ from those
Note:
originally on the parental chromosomes. 3 genes at different loci:
The chromatids/chromosomes with new A, B, C
combinations of alleles are called
recombinant chromosomes. Alleles :
A, a
B, b
Crossing over produces different C, c
combinations of alleles on a particular
chromosome – hence variation

Cause: Exchange of genetic material/genes between non-sister

chromatids of homologous chromosomes
Effect: Results in new combinations of genes on a particular
chromosome – different to the original/parental chromosomes
 3. RANDOM SEGREGATION/INDEPENDENT ASSORTMENT Title is missing!
The chromosomes of each homologous pair separate (anaphase I). One chromosome of each pair moves
into a daughter cell. Homologous pairs of chromosomes lines up randomly at the equator of the cell.
This separation of homologous chromosomes is referred to as random segregation.
The manner in which the homologous chromosomes separate is termed independent
assortment. During metaphase I, the arrangement of maternal and paternal chromosomes of EACH
homologous pair is independent of ALL OTHER PAIRS. This results in different combinations of genes in
gametes from those parents.
 Colour/highlight your diagram

Colour of
maternal
chromosome is
red and the
paternal is blue

Cause:
• At metaphase I of meiosis, maternal and paternal chromosomes of each homologous pair line up randomly.
• As a result the maternal and paternal chromosomes of each homologous pair segregate into gametes independently
of all other pairs.
Effect:
• Different combinations of genes/alleles from different combinations of maternal/paternal chromosomes
 Genetic variation is produced and depends on which chromosome (maternal or paternal) of
each pair ends up in which daughter cell.
Hence random segregation/independent assortment produces different combinations of genes
from different chromosomes in each gamete.

Note: in humans (23 pairs of chromosomes) – there are 223 (over 8 million) different possible
combinations of maternal paternal chromosomes in a human gamete
Let’s look at an example showing possible genes on the chromosomes….....
 During Meiosis II
The two daughter cells that result from meiosis I each undergo meiosis II
and the behaviour of chromosomes in the second meiotic division does not
further affect genetic variation.
 Fertilisation and variation
Fertilisation involves the random meeting of any two gametes which
produces further variation.

• All gametes vary genetically as a result of meiosis – the gametes contain

different recombined genetic material due to crossing-over and random
segregation.
• During fertilisation there are many possible combinations of gametes –
depending on which sperm fuses with which egg.
• The resulting zygote will contain a unique combination of genes leading to
greater variability within a population.
 VARIATION PRODUCED BY MUTATION

Another source of variation is mutation, which most commonly occurs

during DNA replication prior to the start of cell division – mitosis or
meiosis. A mutation is a change in the genetic information stored in DNA
and may result in the formation of new alleles (alternative forms of a gene)
This will be covered in Module 6 – ‘Genetic Change’
 Watch the clip on meiosis and variation

https://www.khanacademy.org/science/hs-biology/x4c673362230887ef:inheritance-and-
variation/x4c673362230887ef:sources-of-genetic-variation/v/sources-of-genetic-variation

COMPLETE THE MODELLING TASK ON MEIOSIS AND VARIATION

• Model the formation of new combinations of genotypes produced during
meiosis, including but not limited to:
-interpreting examples of autosomal, sex-linkage, co-dominance, incomplete
dominance and multiple alleles
TERMS USED IN GENETICS – THE STUDY OF INHERITANCE
GENE:
• Section of DNA in a chromosome
• A gene codes for a particular characteristic or trait e.g. gene for height of
pea plants, gene for seed colour, gene for human eye colour
• A gene contains a specific sequence of bases that codes for the
production of one polypeptide (part of a protein)
ALLELE:
• Alleles are alternative forms of a gene for the same characteristic e.g. In
pea plants, allele for tall plant (T) and allele for dwarf plant (t). In humans,
allele for brown eyes (B), allele for blue eyes (b).
• Alleles are situated at the same LOCUS (position) on a pair of homologous
chromosomes
LOCUS:
• Specific position on a chromosome
Draw a diagram to distinguish between allele and gene
 G and g are alleles
- alternative forms
Paired chromosomes, of a gene for the same
one maternal, one paternal trait at the same LOCUS
(position) on a pair of
carrying corresponding pairs of homologous chromosomes
alleles

There are 4 different genes

shown at 4 different loci

Draw this diagram in your workbook

Write down the genotype of this organism for the genes shown.
 More important terms………..
GENOTYPE: the pair of alleles present for a particular characteristic e.g., TT,
Tt, or tt
PHENOTYPE: the physical appearance of a characteristic that is expressed or
displayed in the individual e.g., Tall pea plant, short pea plant
HOMOZYGOUS (PURE-BRED): the alleles carried on homologous
chromosomes for a particular characteristic are the SAME e.g., TT, tt
HETEROZYGOUS (HYBRID): the alleles are DIFFERENT e.g., Tt
DOMINANT GENE/ALLELE: is always expressed in the phenotype
RECESSIVE GENE/ALLELE: is only expressed in the absence of the dominant
one
Example:
 When looking at generations of offspring
MONOHYBRID INHERITANCE: inheritance of one characteristic

P, F1 AND F2 generations: The parental (P) generation is the first set of parents
crossed.
The F1 (first filial) generation consists of all the offspring from the parents.
The F2 (second filial) generation consists of the offspring from allowing the F1
individuals to interbreed
 INHERITANCE PATTERNS
Gregor Mendel (1866)
• Mendel was an Austrian monk and his work is the basis of all inheritance patterns.
• He used mathematical calculations to propose a model where ratios of various types of
offspring from any two specific parents could be predicted.

1. AUTOSOMAL INHERITANCE – proposed as a result of Mendel’s experiments

Mendel experimented with garden pea plants, investigating their breeding patterns to
determine the inheritance of characteristics (traits)
The traits he studied;
To establish F1 GENERATION F2 GENERATION
pure-breeding lines Cross pure-breds to Self-pollinate hybrids to
produce hybrid offspring F 1 produce F2 (Second
(first generation) generation)
Mendel
controlled the
breeding lines of
his experiments
as follows:
One of Mendel’s experiments
Inheritance of height in
pea plants
• Mendel crossed a pure
breeding tall plant with a
pure breeding short plant.
Step 1
• In the first generation (F1)
all the offspring were tall
• He then crossed the F1
offspring together and
obtained a second
generation (F2) in the ratio
3 tall:1 dwarf.
Step 2
• Other Monohybrid crosses
produced similar results
and this 3:1 ratio is known
as the monohybrid ratio
Step 3
NOTE: MONOHYBRID CROSS refers to crossing individuals with contrasting factors for one characteristic
e.g. Tall plant crossed with short plant
Mendel obtained similar results for each trait

Similar ratios for each trait

What was the significance of these findings?

• There was no blending or mixing of characteristics, offspring were either TALL or
DWARF/SHORT
• Only ONE characteristic appears in the F1 (tall) – the dominant characteristic
• The dwarf characteristic reappears in the F2 generation – the recessive characteristic
 Mendel’s interpretation/conclusions
MENDEL’S FIRST LAW – THE LAW OF DOMINANCE AND SEGREGATION

• An organism’s characteristics are determined by INTERNAL FACTORS which occur

in PAIRS
• Only ONE of a PAIR of such factors can be represented in a single gamete
• The factors RECOMBINE at FERTILISATION. They do not blend but MATCH
TOGETHER
• One of the pair of factors is dominant over the other (recessive) when they are
present together

In modern terms this can be restated:

• An organism’s characteristics are determined by GENES which occur in PAIRS
• Only ONE of a PAIR of GENES can be represented in a single gamete
• The genes recombine at fertilisation
 Explanation of Mendel’s first law in modern terms
Key: Let T= tall t= dwarf
P Pure-breeding TALL PLANT × Pure-breeding DWARF PLANT

Gametes

F1 generation:
Ratio
 Explanation of Mendel’s first law in modern terms
Cross-breed F1 offspring to produce F2
Hybrid TALL PLANT × Hybrid TALL PLANT

Gametes

F2 generation:
Ratio
 Page 14
1. AUTOSOMAL INHERITANCE - SUMMARY

• The traits Mendel studied were typical of autosomal inheritance and complete
dominance
• This means that if two alleles of a gene are present in a population,
- one allele is dominant and always expressed in the phenotype
- the other allele is recessive – masked by the dominant allele if present
• Autosomal inheritance assumes that these alleles are located on one of the non-sex
chromosomes – the autosomes

22 pairs of autosomes in humans

1 pair of sex chromosomes

 The previous examples demonstrate how to set out a
genetics cross – always follow these steps

1. Designate letters to represent alleles – dominant allele is given a capital letter

and the first letter of the dominant characteristic, recessive allele represented by
the same lower case letter.
2. Write down phenotypes and genotypes of each parent
3. Show the genes present in each gamete
4. Draw a Punnett square to show all possible combinations of genes when gametes
fuse

Use a closed square

5. Write out the genotypic and phenotypic ratios

Let’s try some more!

Example: Show the cross between a homozygous pea plant with
green pods and a heterozygous plant with green pods

Key:

Parents:
Phenotype
Genotype

Gametes:

Punnett square:
Phenotypic ratio

Genotypic ratio
 Example: Show the cross between a man, heterozygous with
brown eyes and a woman, also heterozygous

Key: Let B = brown eyes, b = blue eyes

Parents:
Phenotype
Genotype

Gametes:

Punnett square:
Phenotypic ratio

Genotypic ratio
 Test crosses
A test cross is used to determine the genotype of an individual
that shows the dominant trait
Example: a round seeded pea plant may have the genotype RR
or Rr. If it is crossed with a wrinkled, homozygous recessive (rr)
there are 2 possible outcomes.
NOW TRY SOLVING SOME GENETICS PROBLEMS FOR AUTOSOMAL INHERITANCE
 2. CO-DOMINANCE AND INCOMPLETE DOMINANCE
• Not all alleles are dominant and recessive like those studied by Mendel in garden peas.
• In some cases, when both alleles are present, they are both expressed in the phenotype.

CO-DOMINANCE:
When two different alleles for the same gene are present and both are expressed as
separate, unblended phenotypes.

What are ‘separate, unblended phenotypes’?

 Example 1: Shorthorn cattle
Pure-breeding (homozygous) cattle may have red or white coat colour.
Hybrid (heterozygous) cattle have a ROAN appearance – both red and white
hairs are present.

White Red

Roan – red and white hairs

 Use 2 capital letters for co-dominant alleles

Explanation Key: R = red

W = white

GAMETES:

F1

Mendel’s expected ratio?

F1 RATIOS:
 Cross the F1 offspring to produce F2
Parents:

Gametes:
F2

Mendel’s expected ratio?

F2 ratios: Phenotype Genotype

RR:RW:WW
Now show the cross between a red bull and a
roan cow
Example 2: Andalusian chickens

White Black

Blue/Andalusian/Speckled
 a) Show the cross between a black and a white chicken
Key:

Parents:

Gametes:

Ratios: Phenotype Genotype

 b) Show the cross between a ‘blue’ Andalusian and a white chicken

Parents:

Gametes:

Ratios: Phenotype Genotype

 2. CO-DOMINANCE SUMMARY

Cause and effect relationship

• In these cases of co-dominance there are 2 co-dominant alleles but 3 possible phenotypes.
• This is because when both alleles are present in the heterozygous condition, a different phenotype is
produced as both alleles are expressed together.

• In Mendel’s experiments – complete dominance, when 2 different alleles are present in the
heterozygous condition the dominant allele is expressed. Hence only 2 phenotypes are possible as
either the dominant or the recessive allele is expressed. (e.g. tall or short plants)
3. INCOMPLETE DOMINANCE
In incomplete dominance,
the expression of both
genes/alleles in the
phenotype produces a
BLENDING effect.
In the heterozygous
condition, both alleles are
expressed as a blended
phenotype.
Example:
In snapdragon flowers,
PINK flowers are due to
the expression of an allele
for red pigment and an
allele for white pigment.
 Show the F1 and F2 generations for a cross between a red
flowered snapdragon and a white flowered snapdragon
R= red
W= white
WW

F1

RW

F2
W

RW
 4. SEX LINKAGE
• Human body cells contain 23 pairs
of chromosomes – 46
chromosomes in total
• 22 pairs of autosomes (non-sex
chromosomes)
• 1 pair of sex chromosomes

• The Y chromosome is shorter and carries fewer than 50 genes

• The larger X chromosome carries 1,000 – 2,000 genes, some of
which code for non-sexual characteristics.
• These genes are called sex-linked genes since they are
physically linked to the sex chromosome and are inherited
together with the sexual traits.
• Sex-linked genes in males and females differs in their
inheritance patterns since males lack one X chromosome and
therefore have only one allele for each sex-linked trait rather
than a pair of alleles as is present in females
 Sex-linked inheritance - examples
• The genes for certain disorders are located
on the X chromosome. Most genetic
disorders are recessive.
• Therefore, as females have 2 X
chromosomes there is usually a dominant
gene on the other chromosome to mask its
effects.
• In males however, if there is a recessive
gene on the X chromosome, there is no
possibility of a dominant gene to
overshadow it.
• This is why these traits are more common
in males e.g. haemophilia, colour blindness
• Females are often ‘carriers’ of the
defective/recessive gene.
 Haemophilia
The gene that causes the synthesis of an important blood clotting factor is situated on the X
chromosome.
The gene that causes Haemophilia is recessive and located on the X chromosome (X-linked
recessive)
Key: H – normal h - haemophilia
Parent’s phenotype: Normal mother × Haemophiliac father Only one allele
Parent’s genotype:

Gametes:
Punnett square: Ratios
Girls:

Boys:
 Question 1 (notes)
Key: H – normal h - haemophilia
Parent’s phenotype: Carrier mother × Normal father
Parent’s genotype:

Gametes:
Punnett square: Ratios
Girls:

Boys:
 Question 2 (notes)
Key: …..... – normal …..... - colour blind
Parent’s phenotype: Carrier mother × Colour-blind father
Parent’s genotype:

Gametes:
Punnett square: Ratios
Girls:

Boys:
 5. MULTIPLE ALLELES
In cases of multiple alleles, there are MORE THAN TWO ALLELES that exist for a particular
gene.
However, only TWO ALLELES may be present in any individual at a single locus
 5. MULTIPLE ALLELES
In cases of multiple alleles, there are MORE THAN TWO ALLELES that exist for a particular
gene.
However, only TWO ALLELES may be present in any individual at a single locus

Pair of homologous chromosomes

If alleles are;
CF ,
Cch, CF Ca Ca Only 2 alleles at
CF
single locus -
Ch, can be any 2 out of
Ca the 4 possible

Often one allele is referred to as the WILD TYPE which produces the basic trait and the other
alleles called mutant alleles which produce variations to the phenotype

The greater the number of alleles, the greater the number of possible genotypes and phenotypes
 Example 1: Coat colour in rabbits

There are FOUR alleles that form a dominance series;

Multiple alleles are indicated by using
CF > Cch > Ch > Ca a superscript e.g. CF

> …. means ‘is dominant to’

Hence the possible phenotypes are;

Note: these rabbits are

all homozygous

CF - Full coat/black
Cch – Chinchila
Ch - Himalayan
Ca - Albino
 Therefore, possible genotypes and phenotypes are…....

Phenotype Genotype
Full coat (Black) CFCF, CFCch, CFCh, CFCa
Chinchila CchCch, CchCh, CchCa
Himalayan ChCh, ChCa
Albino Ca Ca

Show the cross between an albino rabbit and a heterozygous himalayan rabbit
 Multiple alleles: Example 2 – Human blood groups
• Blood groups in humans are determined by multiple alleles.
• It is also an example of co-dominance
Human blood cells have markers called antigens on their surface which play an
important role in allowing a person’s own body cells to be recognised by the
immune system as ‘self’ (from the same individual)
Background information:
Group A Group B Group AB Group O

Antigen is on the surface

of the red blood cell

Antibody is produced
against any foreign cells

Depending on blood
type,
a person can only receive
blood of a specified type
 How are blood groups determined?
There are THREE alleles as follows;
IA, IB, IO (or shown i )

Alleles IA and IB are CODOMINANT

Alleles IA and IB are DOMINANT over I
Allele i is recessive

Therefore, there are 4 different blood groups (phenotypes)

GENOTYPES PHENOTYPES – BLOOD GROUP

IAIA, IAi Group A
IBIB, IBi Group B
IAIB Group AB
ii Group O
Solve the following problem relating to
inheritance of blood group
John and Rita have 2 children. John is group O and Rita is group AB.
Show the possible blood groups of the children.

Key:

Parents:

Punnett square:

Possible blood groups of children:

 • Model the formation of new combinations of genotypes produced during meiosis,
including but not limited to:
- constructing and interpreting information and data from pedigrees and Punnett
squares

Why use pedigree charts?

Because experimental crosses with humans are not possible
We can use medical history, family records and historical data to determine the inheritance
of human traits

Example
Queen Victoria
 PEDIGREE ANALYSIS
• If traits expressed in a family over several generations are studied, a
pedigree chart or family tree can be constructed to record phenotypes.
This may be used to work out the genotypes of family members.
• This type of information is often used to study hereditary patterns in
families by tracing the inheritance of any particular type of characteristic
• The purpose of pedigree charts may range from studying mutations in
humans that result in diseases or disorders to studying desirable
phenotypic traits in horses for breeding purposes. (e.g. for Melbourne
Cup!)
 PEDIGREE ANALYSIS
• The traits that appear in each generation are recorded using particular
symbols and lines to show relationships. Analysis of pedigree charts is
based on using logic and reasoning to work out the genotypes of parents
and offspring.
• Pedigree charts are drawn in a universally accepted scientific format using
standard symbols
• The occurrence of a particular trait in a family is represented by shading

(cousins)
Individual considered
as a starting point of
genealogy
 PEDIGREE ANALYSIS
• A pedigree can therefore be defined as a graphical (pictorial)
representation of the inheritance patterns of a particular trait in related
individuals over several generations.
Pedigree analysis is done to determine:
• How many family members have the trait
• The gender of the affected individuals
• How individuals are related
The information is then used to;
• Determine inheritance patterns
• Assign genotypes to individuals where possible
• Make predictions about the risk/probability of an individual inheriting a
trait
Sample pedigree – how to number the
generations and individuals
Shaded individuals have the
specific trait
 How can we recognise different patterns of inheritance?
1. Autosomal dominant

Trait or

Copy this down

2. Autosomal recessive

Autosomal recessive
SEX-LINKED RECESSIVE
AND…........
Analysing pedigrees
Patterns of inheritance: Summary
Refer to your notes;
 Worked examples: Example 1 Albinism
Key:

Peter and Judy have 3 children. Their firstborn child, Sally is

albino. Their other 2 children, a boy, Ted and a girl, Emma
have normal skin pigmentation. Peter’s father was an albino
but his mother was normal. Judy’s parents were both normal
for skin pigmentation. When Emma grows up, she marries
Phil and has an albino daughter.

Draw a pedigree for this family to show the inheritance of

albinism. Is the condition autosomal dominant or recessive?
Give reasons.

From the pedigree, work out the genotypes of Peter and Judy,
Emma and Phil.
Pedigrees answers
Worksheet 1.7 Genetics and pedigree charts
Genetics and pedigree charts - answers
 • Collect, record and present data to represent frequencies of characteristics
in a population, in order to identify trends, patterns, relationships and
limitations in data, for example:
- examining frequency data
- analysing single nucleotide polymorphism (SNP)
Examining frequency data – A. INTRODUCTION TO POPULATION
GENETICS
Population: Definition
• A group of individuals of one species living in a certain area – a single
interbreeding group
• Population genetics is the study of how the gene pool of a population
changes over time, leading to a species evolving
• The gene pool is the sum total of all the genes and their alleles in a
population.

Population – in
specific area e.g. how many allele
A and how many allele a?
 How can changes in a population be measured?
The purpose of population genetics
• Population genetics combines the concepts of Mendelian genetics and Darwinian
evolution to explain how changes in allele frequencies arise in populations and how
these changes can lead to microevolution (over a short time) and macroevolution
(over long periods of time)
• By measuring the degree of genetic variation within a population over time, scientists
can make predictions about how populations adapt to their environments and
which populations are more likely to flourish, evolve into new species or die out.
• Population geneticists study factors that cause changes in allele frequency within a
population. They use a model based on allele frequencies typical of a stable
population with Mendelian inheritance (equilibrium), compare this with allele
frequencies in a real population exposed to selective pressures.

Remember;
Microevolution – changes in gene frequencies within a
Population

Macroevolution – formation of new species (requires

isolation and takes place over longer periods of time)
 How can a model be used?
Uses of data from population genetics

• To conduct a valid study, population geneticists gather quantitative data-

they measure gene and allele frequencies within real populations – then
apply an abstract mathematical model to predict how external factors will
influence these frequencies.
• They test their conclusions against empirical data (obtained by
observation/experimentation) so that they can draw valid concludions
about patterns of genetic variation within populations over time.
 B. EXAMINING FREQUENCY DATA
I. What data is collected?
• Genetic variability within a population is essential for evolution by natural
selection
• Microevolution can be studied by examining a change in the frequencies
of alleles in a population over several generations. For example:
• Skin colour in the red-eyed tree frog is determined by a gene that has 2
alleles – A- normal and a – albino

• Genetic variability in a population can be determined by analysing the

relative proportion of a given phenotype, genotype or allele within that
population.
 How to calculate allele frequency
II. How data is analysed when heterozygotes are known?
Allele frequency is a measure of how common an allele is within a population

Referring to the previous e.g….

Many genes are bi-allelic – this means they have 2 variants, that is 2 possible
alleles within a population Some genes may be multi-allelic. E.g.,
inheritance of blood type in humans.
e.g., A = Normal a = albino
• Allele frequency can be calculated by counting the number of copies of an
allele in a population and then dividing by the total number of copies of all
alleles of the gene
• The formula is:
𝑛𝑢𝑚𝑏𝑒𝑟 𝑜𝑓 𝑐𝑜𝑝𝑖𝑒𝑠 𝑜𝑓𝑡ℎ𝑒 𝑎𝑙𝑙𝑒𝑙 𝑖𝑛 𝑎 𝑝𝑜𝑝𝑢𝑙𝑎𝑡𝑖𝑜𝑛
allele frequency =
𝑡𝑜𝑡𝑎𝑙 𝑛𝑢𝑚𝑏𝑒𝑟 𝑜𝑓 𝑐𝑜𝑝𝑖𝑒𝑠 𝑜𝑓 𝑡ℎ𝑒 𝑔𝑒𝑛𝑒𝑠 𝑖𝑛 𝑡ℎ𝑒 𝑝𝑜𝑝𝑢𝑙𝑎𝑡𝑖𝑜𝑛
 Worked example 1 – Text book p182
This question investigates the change in the frequency of alleles A and a in the
frog population over 7 generations.

i.e. what is causing

the change

Generation 1 Generation 7
 Working out
Generation 1 Generation 7

Phenotype freq:

Normal frogs 10
Normal =
12
Albino frogs 2
A𝑙𝑏𝑖𝑛𝑜 =
12
Genotype freq:

AA 7
𝐴𝐴 =
12
Aa 3
𝐴𝑎 =
12
aa 2
𝑎𝑎 =
12
Allele frequency:

A (14 + 3)
𝑓(𝐴) =
24
a (4 + 3)
𝑓 𝑎 =
24
Answers ( from text)
 Now try this one Example 2 – p182

Set out like this….....

Generation 1 Generation 2 Generation 3
Genotype frequency
bb
BB
Phenotype frequency
White
Black
Allele frequency
B
b
Possible reasons for change

Hypothesis
Answers Q1
1) Calculate the phenotypic, genotypic and allele
frequencies for the ABO blood groups in the family
shown in the pedigree (Fig. 5.27). Their genotypes are
as follows: father - AO, mother - BO, son - AB,
daughter - AO, baby - O.
 The Hardy-Weinberg principle
(Unknown heterozygotes)

• The Hardy-Weinberg principle is a mathematical model used to

calculate allele frequencies of traits with dominant and
recessive alleles.
• It can be used to calculate the allele frequency of a gene in the
population and can show changes in the frequency over time.
 Assume 2 heterozygotes crossed
Aa x Aa
Let: A a
Frequency of dominant X (p) (q)
allele, 0.5 0.5
p = 0.5

Frequency of A AA Aa
recessive allele, (p) p2 pq
q = 0.5 0.5 0.5 x 0.5 = 0.25 0.5 x 0.5 = 0.25

a Aa aa
We know that: (q) pq q2
p+q=1 0.5 0.5 x 0.5 = 0.25 0.5 x 0.5 =0.25
0.5 + 0.5 = 1

f(homozygous dominant) + f(heterozygous) + f(homozygous recessive) = 1

AA + 2(Aa) + aa =1

p2 + 2pq + q2 =1

0.25 + 0.5 + 0.25 =1

 What is a gene pool?
The gene pool can be defined as:

The total information from all the genes and alleles of the breeding individuals in a population at a
particular time.

The gene pool’s composition changes

from one generation to the next as the
relative proportions of alleles vary.

If there is a consistent change in

allele frequency (the proportion of organisms in the
population carrying a particular allele) then
a population is evolving.

Those individuals who are unable to reproduce do not

contribute to the gene pool.
Genetic drift
 Population bottlenecks
A population bottleneck occurs when a large, genetically diverse population is
drastically reduced by a catastrophic, non-selective event, such as a volcanic
eruption.

The total genetic diversity of the few survivors is likely to be much lower than that of
the original population. As the population re-establishes itself, this low level of
diversity will be maintained.

The cheetah population has an

exceptionally low genetic diversity. This is
thought to be due to a very narrow
bottleneck, where only a single family group
survived the last ice age.
 Introducing the Hardy-Weinberg
principle
The Hardy-Weinberg principle is a mathematical model used to calculate the
allele frequencies of traits with dominant and recessive alleles.

The model assumes that the population:

⚫ is large
⚫ has random mating
⚫ is experiencing no selection
⚫ has no mutation, emigration or immigration.

If these assumptions are met then the allele frequencies of the population
will remain stable over time.
The Hardy-Weinberg principle
To derive the H/W equation
 To derive Hardy- Weinberg Principle
e.g., if frequency of dominant allele,

f(p) = 0.6, Since p + q = 1

q = 1 – 0.6 = 0.4
then

The chance of dominant allele combining with another dominant allele at fertilization is

0.6 x 0.6 = 0.36.

A a
(p) (q) 𝑝2 + 2𝑝𝑞 + 𝑞 2 = 1
X 0.6 0.4 0.36 + (2 x 0.24) + 0.16 = 1

A AA Aa
(p) p2 pq
0.6 0.6 x 0.6 = 0.36 0.6 x 0.4 = 0.24

a Aa aa
(q) pq q2
0.4 0.6 x 0.4 = 0.24 0.4 x 0.4 = 0.16
Limitations of the data relate to;
The Hardy–Weinberg principle (also known as the Hardy-Weinberg
equilibrium) is based on the idea that the frequency of alleles in a
population remains constant from one generation to the next if none of
the evolutionary influences (such as mutation, sexual selection,
genetic drift or gene flow) are acting. That is, it assumes that a
population is in a hypothetical state of equilibrium.

G.H. Hardy and William Weinberg introduced their mathematical

model in 1908 and developed an equation that shows how Mendelian
genetics work at the level of the whole population and gives the
expected frequency of different alleles in a hypothetical population
that is not evolving.

It makes certain assumptions about the hypothetical population:

• alleles are equally beneficial (no natural selection)
• mating is completely random (no sexual selection)
• no random modification of the gene pool occurs (no mutation)
• the population is large (no effect from genetic drift)
• no immigration or emigration occurs (no gene flow).
The Hardy-Weinberg principle enables scientists to find a relationship between
the phenotype and the actual frequency of the genes in a population. If we know
the frequency of homozygous recessive individuals in a population (for example,
the percentage of the population that is ww), we can conclude that the remaining
individuals must be either WW or Ww.

We can then use simple mathematics to work out what proportion of the
remaining population is WW and what proportion is Ww. We can then look at
actual allele frequencies and try to find reasons for the difference between this
and the expected ratios.

The change in allele frequencies in a gene pool of a population over generations

is known as microevolution. Populations may undergo microevolutionary change
and still interbreed, but at times isolation occurs and this may lead to the
development of new species (speciation). This means that if the original
populations were brought together again, they would have enough variation that
they could no longer interbreed, indicating that, over many generations,
microevolutionary changes can lead to new species.

Therefore, the Hardy-Weinberg equation can be a useful way to describe the

degree of microevolution that is taking place over successive generations
 Calculating allele frequencies

1
𝑞2 = = 0.005
200

∴𝑞 = 0.005 = 0.0707

𝑝+ 𝑞 = 1
𝑝 = 1 − 0.07 = 0.93

Carriers = heterozygotes:
2𝑝𝑞 = 2 × 0.93 × 0.0707 = 0.1315 (frequency)
0.1315
× 100 = 13.2%
1
One person in 10,000 in Europe is albino. How many individuals are carriers of the
recessive gene?

1
𝑞2 = = 0.0001
10000

𝑞 = 0.0001

= 0.01

𝑝 = 1 − 0.01
= 0.99
 Collect, record and present data to represent frequencies of characteristics in a
population, in order to identify trends, patterns, relationships and limitations in data,
for example:
- examining frequency data
- analysing single nucleotide polymorphism (SNP)

What is a ‘Single Nucleotide Polymorphism’? -

• In genetics polymorphism refers to
individuals with different phenotypes
(‘many forms’).
• Polymorphisms arise due to mutations – an
error in DNA repliction.
• A single nucleotide polymorphism (SNP) is
where one nucleotide is replaced by another
• SNPs usually arise during DNA replication
where a single nucleotide is incorrectly
inserted
• To be classified as a SNP (pronounced ‘snip’)
and not just a mutation, it must occur in at
least 1% of the population
 What is the importance of SNPs in genetic studies?
• Most SNPs occur in non-coding regions of DNA and do not lead to
phenotypic changes
• SNPs are important genetic markers that are currently used to distinguish
individuals and identify things such as disease susceptibility in individuals.
• A genetic marker can be defined as an identified sequence of DNA at a
known site (called LOCUS) on a chromosome.
• As individuals show great variation in the genetic markers they have, it
gives scientists a way to tell individuals apart.
• For example, there are approximately 10 million known SNPs in the
human genome.
• Some genetic markers are associated
with specific traits but do not cause them
 SNPs – Extra summary notes
• Definition:
Single Nucleotide Polymorphism – Substitution of a single nucleotide at a
specific position (locus) in the genome.
• Present in at least 1% of the population
• Examples: Sickle cell anaemia, β thalassemia and cystic fibrosis result from
SNP’s
• May occur within coding, non-coding or inter-genic regions (between
genes) of DNA. However, they occur more frequently in non-coding
regions (selected against in coding regions)
• SNPs in non-coding regions can still affect gene expression
• Although SNPs may not cause a disorder, some are associated with certain
diseases. In this case they may act as ‘chromosomal tags’ to identify
specific regions of DNA. This is useful for diagnosis.
• There are variations between human populations. One SNP allele may be
more common in one geographical or ethnic group and much rarer in
another.
 What are haplotypes?
• Advances in bioinformatics – computer analysis of biological data, has
allowed large numbers of SNP markers to be identified in particular regions of
chromosomes.
• A haplotype is a group of SNP markers associated with a particular trait
• Some applications of identifying haplotypes are;
- to identify/ as indicators of disease
- to establish family lineage
- to study evolutionary relatedness
• On average, the frequency of SNP’s is approximately 1 in every 300
nucleotides in the human genome, most of which occur in the non-coding
regions (introns) of DNA
• GENOME WIDE ASSOCIATION STUDIES (GWAS) involves scientists looking for
SNP’s that occur in higher frequencies in people with a particular disease
compared with people who do not have the disease.
• The SNP’s that occur in a higher frequency are said to be associated with that
disease
• Haplotype analysis has shown an association between particular SNP’s and
human diseases such as osteoporosis, asthma, diabetes and Alzheimer’s
 Limitations of SNP data
• Genetic markers that are closer together give more accurate data.
• This is because one must look at SNPs that have been inherited from one
parent.
• If there is crossing over during meiosis, the SNPs on a chromosome might
not all be inherited together.
END OF MODULE 5
DEPTH STUDY 1
WEEK 3 TERM 1