First Exams 2025

D3.2 Inheritance
Theme: Continuity and Change

Level of Organisation: Organisms

Combined Content
SL and
HL
SL and HL Content
From
IB Guiding Questions the IB

What patterns of inheritance exist in plants and animals?

What is the molecular basis of inheritance patterns?
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From
SL & HL Content: D3.2: the IB

Inheritance
D3.2.1: Production of haploid gametes in parents and their fusion to
form a diploid zygote as the means of inheritance
D3.2.2: Methods for conducting genetic crosses in flowering plants
D3.2.3: Genotype as the combination of alleles inherited by an organism
D3.2.4: Phenotype as the observable traits of an organism resulting
from genotype and environmental factors
D3.2.5: Effects of dominant and recessive alleles on phenotype
SL and HL Content
From
SL & HL Content: D3.2: the IB

Inheritance
D3.2.6: Phenotypic plasticity as the capacity to develop traits suited to
the environment experienced by an organism, by varying
patterns of gene expression
D3.2.7: Phenylketonuria as an example of a human disease due to a
recessive allele
D3.2.8: Single-nucleotide polymorphisms and multiple alleles in gene
pools
D3.2.9: ABO blood groups as an example of multiple alleles
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From
SL & HL Content: D3.2: the IB

Inheritance
D3.2.10: Incomplete dominance and codominance
D3.2.11: Sex determination in humans and inheritance of genes on sex
chromosomes
D3.2.12: Haemophilia as an example of a sex-linked genetic disorder
D3.2.13: Pedigree charts to deduce patterns of inheritance of genetic
disorders
D3.2.14: Continuous variation due to polygenic inheritance and/or
environmental factors
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From
SL & HL Content: D3.2: the IB

Inheritance
D3.2.15: Box-and-whisker plots to represent data for a continuous
variable such as student height
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SL & HL Key Terms

Haploid Allele
Diploid Genotype
Gamete Phenotype
Zygote Homozygous
P Generation Heterozygous
F1 Generation Dominant Allele
F2 Generation Recessive Allele
Gene Phenotypic Plasticity
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SL & HL Key Terms

Gene Expression Incomplete Dominance
Phenylketonuria Codominance
Gene Pool Sex Chromosomes
Mutation Autosomes
Base Substitution Mutation Haemophilia
Single-Nucleotide Polymorphism Sex-Linked Trait
Multiple Alleles Pedigree
ABO Blood Groups Pedigree Chart
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SL & HL Key Terms

Polygenic Inheritance Minimum
Continuous Variation Maximum
Discrete Variation First Quartile
Melanin Third Quartile
Mean Interquartile Range
Median Outlier
Mode
Box-and-Whisker Plot
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From
D3.2.1: Production of haploid the IB

gametes in parents and their fusion

to form a diploid zygote as the
means of inheritance
Students should understand that this pattern of inheritance is common
to all eukaryotes with a sexual life cycle.
They should also understand that a diploid cell has two copies of each
autosomal gene.
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Inheritance and Sexual Life Cycles

In a sexual life cycle, two parents
produce haploid gametes by meiosis
The fusion of the two haploid gametes
forms a diploid zygote. The zygote
develops into a new individual.
The zygote inherits all of its genetic
information from the haploid gametes.
Genetic inheritance is the process by
which genetic information is passed
from parents to offspring. Sexual reproduction requires meiosis to produce gametes
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From
D3.2.2: Methods for conducting the IB
genetic crosses in flowering plants
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 cross.
They should also understand that plants such as peas produce both male
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.
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Mendel’s Experiments with Pea

Plants
Gregor Mendel,
the father of
genetics,
carried out his
experiments
using pea
plants.
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Pea Plants
There were several benefits of using pea plants including:
● Peas are an annual plant – they have one full life cycle
within one year. This allowed Mendel to collect lots of
data quickly – his experiments were carried out over
only 8 years. White Flowered Pea Plant

● Peas have two clear versions of each trait that Mendel

investigated (e.g. - seed colour: yellow seeds and green
seeds).
● Peas are self-pollinating plants – This ensures that
plants are more likely to be pure-breeding
(homozygous).
Purple Flowered Pea Plant
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Pea Plants
The pollen of the pea plant contains the male gametes,
and the ovules in the carpel contain the female gametes.

The flowers of pea plants produce male and female White Flowered Pea Plant

gametes at the same time.

Self-pollination and self-fertilization are common in pea
plants.

Purple Flowered Pea Plant

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Generations
The original parents in a genetic
cross are the P generation
(parent generation)
The offspring of the P generation
are the F1 generation (first filial
generation).
The offspring of two individuals
from the F1 generation are the F2
generation (second filial
generation).
Generations of pea plants
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Breeding New Varieties of Plants

Genetic crosses
are frequently
used to breed
new varieties of
crops and
ornamental
plants.
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From
D3.2.3: Genotype as the the IB

combination of alleles inherited by

an organism
Students should use and understand the terms “homozygous” and
“heterozygous”, and appreciate the distinction between genes and
alleles.
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Alleles and Genes

Genes are
sections of DNA
that code for a
specific protein,
and determine a
trait.

❓ Distinguish
between gene
and allele.
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Genotypes
Alleles are alternative forms of a gene. Alleles are produced by
mutations to a gene.
Organisms which have cells with diploid nuclei will have two copies of each
gene.
Homozygous individuals have two identical copies of an allele for a gene.
Heterozygous individuals have two different copies of an allele for a gene.
Genotype is the combination of alleles inherited by an organism.
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From
D3.2.4: Phenotype as the the IB

observable traits of an organism

resulting from genotype and
environmental factors
Students should be able to suggest examples of traits in humans due to
genotype only and due to environment only, and also traits due to
interaction between genotype and environment.
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Phenotypes
Phenotypes are the observable
traits of an organism
determined by the genotype
interacting with the
environment.
❓ Suggest examples of traits in
humans due to:
● genotype only
● environment only Genotype interacts with the environment to determine phenotype
● interaction between
genotype and environment.
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Phenotypes
Traits determined by genotype Traits determined solely by
only: environment
● Blood type ● Language spoken and accent
● Genetic diseases
● Eye colour

Traits determined by genotype

interacting with the environment:
● Height
● Athletic performance
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From
D3.2.5: Effects of dominant and the IB

recessive alleles on phenotype

Students should understand the reasons that both a homozygous-

dominant genotype and a heterozygous genotype for a particular trait
will produce the same phenotype.
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Dominant and Recessive Alleles

Alleles can be
dominant or
recessive.

❓ Distinguish
between
dominant
and
recessive
alleles.
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Dominant and Recessive Alleles

Dominant alleles are alleles that have the same effect on the phenotype
in homozygous and heterozygous individuals.
The dominant allele is always expressed in the phenotype.
Recessive alleles are alleles that have an effect on the phenotype of a
homozygous individual with two recessive alleles of the gene.
Recessive alleles are only expressed when an individual has two
recessive alleles for a trait.
Individuals can be homozygous dominant - two copies of the dominant
allele, homozygous recessive - two copies of the recessive allele or
heterozygous - two different alleles.
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Inheritance of Dominant and

Recessive Alleles
Dominant alleles
are usually
represented by
an uppercase
letter in the
genotype.
Recessive alleles
are usually
assigned a
lowercase letter
in the genotype.
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Genetics Problems and Punnett

Grids
Solve genetics problems by completing the following:
1. Create a key for the alleles. Choose one letter to represent the gene.
The dominant allele will have an upper-case letter, and the recessive
allele will have a lower-case letter.
2. Write down the phenotype and genotype of the parents.
3. Complete a Punnett grid to determine the potential genotypes of the
offspring.
4. Identify the genotype and phenotype ratios of the offspring.
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Monohybrid Cross Problem

1.Create Key for Alleles
❓ The presence of freckles is a trait controlled by a dominant allele in
humans. If two parents are heterozygous for the trait, determine the
probability of them having a child with freckles.

Freckles is dominant Allele Key

Not having freckles is recessive F: Freckles
F is a good choice of letter for the
gene f: No freckles
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Monohybrid Cross Problem
2.Write Phenotype and Genotype of the
Parents
The presence of freckles is a trait controlled by a dominant allele in humans. If two
parents are heterozygous for the trait, determine the probability of them having a
child with freckles

Phenotype: Freckles x Freckles

Both parents are heterozygous so they will both have one dominant and
one recessive allele:

Genotype: FfxFf
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Monohybrid Cross Problem

3. Complete a Punnett Square
Phenotype: Freckles x Freckles
Genotype: FfxFf

F f
F FF Ff
f Ff ff
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Monohybrid Cross Problem
4. Identify Genotype and Phenotype Ratios of the
Offspring

F f
F FF Ff
f Ff ff
Genotype Ratio: 1FF:2Ff:1ff
Phenotype Ratio: 3 Freckles : 1 No freckles
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Monohybrid Cross Problem

❓ The presence of freckles is a trait controlled by a dominant allele in
humans. If two parents are heterozygous for the trait, determine the
probability of them having a child with freckles.

Genotype Ratio: 1FF:2Ff:1ff

Phenotype Ratio: 3 Freckles : 1 No freckles

According to the phenotype ratio, there is a 3 in 4 (75%) chance of a child

being born with freckles.
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From
D3.2.6: Phenotypic plasticity as the the IB

capacity to develop traits suited to

the environment experienced by an
organism, by varying patterns of
gene expression
Phenotypic plasticity is not due to changes in genotype, and the changes
in traits may be reversible during the lifetime of an individual.
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Phenotypic Plasticity
Phenotypic
plasticity is the
capacity to
develop traits
suited to the
environment
experienced by an
organism, by
varying patterns of
gene expression
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Phenotypic Plasticity
Phenotypic plasticity is not
due to changes in genotype,
and the changes in traits may
be reversible during the
lifetime of an individual.
In the case of the arctic foxes,
there is no change in
genotype as the phenotype
changes depending on the
seasons. Arctic fox phenotypes in summer and winter
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From
D3.2.7: Phenylketonuria as an the IB

example of a human disease due to

a recessive allele
Phenylketonuria (PKU) is a recessive genetic condition caused by
mutation in an autosomal gene that codes for the enzyme needed to
convert phenylalanine to tyrosine.
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Phenylketonuria
Phenylketonuria
(PKU) is a genetic
disease where an
individual does not
have a functioning
gene to make the
enzyme that
converts the
amino acid
phenylalanine to
tyrosine.
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Phenylketonuria
High concentrations of phenylalanine
build up in the brain, which causes
intellectual disability, delayed
development, behavioural, emotional
and social problems. More information
on the Mayo Clinic website.
Phenylketonuria is a disease caused by a
recessive allele.
A blood test at birth is used to identify
People with phenylketonuria are babies with phenylketonuria.
homozygous recessive for the disease,
and are unable to make the enzyme to
convert phenylalanine to tyrosine.
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Phenylketonuria Problem
1.Create Key for Alleles
❓ If one parent is heterozygous for phenylketonuria and the other parent
has the disease, determine the probability of them having a child with
phenylketonuria.

Phenylketonuria is recessive. Allele Key

Not having phenylketonuria is D: No
dominant. phenylketonuria
D is a good choice of letter for the
gene. d: Phenylketonuria
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Phenylketonuria Problem
2. Write Phenotype and Genotype of
the Parents
If one parent is heterozygous for phenylketonuria and the other parent has
the disease, determine the probability of them having a child with cystic
fibrosis.

Phenotype: No Phenylketonuria x
Phenylketonuria
One parents is heterozygous so they will have one dominant and one recessive
allele - D d.
The other parent has the disease so must have two recessive alleles - d d.

Genotype: Ddxdd
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Phenylketonuria Problem
3. Complete a Punnett Square
Phenotype: No Phenylketonuria x
Phenylketonuria
Genotype: Ddxdd
d d
D Dd Dd
d dd dd
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Phenylketonuria Problem
4. Identify Genotype and Phenotype Ratios of
the Offspring
d d
D Dd Dd
d dd dd
Genotype Ratio: 1Dd:1ff
1 No Phenylketonuria : 1
Phenotype Ratio: Phenylketonuria
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Phenylketonuria Problem
❓ If one parent is heterozygous for phenylketonuria and the other parent
has the disease, determine the probability of them having a child with
phenylketonuria.

Genotype Ratio: 1Dd:1ff

1 No Phenylketonuria : 1
Phenotype Ratio: Phenylketonuria

According to the phenotype ratio, there is a 1 in 2 (50%) chance of a child

being born with phenylketonuria.
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From
D3.2.8: Single-nucleotide the IB

polymorphisms and multiple alleles

in gene pools
Students should understand that any number of alleles of a gene can
exist in the gene pool but an individual only inherits two.
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Gene Pools
A gene pool is all of the different genes and alleles present within an
interbreeding population of a species.
There can be many different alleles of a gene in any gene pool.
Many of the alleles are the result of base substitutions of the gene
forming new variations of the gene known as single-nucleotide
polymorphisms.
Even though there may be many alleles of a gene in a population, an
individual will only have two copies of the gene, inheriting one allele
from each parent.
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From
D3.2.9: ABO blood groups as an the IB

example of multiple alleles

Use IA, IB and i to denote the alleles.

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ABO Blood Groups

ABO blood
groups are based
on the presence
of antigen
proteins on the
plasma
membrane of red
blood cells.
ABO blood types
is an example of a
gene with
multiple alleles.
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ABO Blood Group Alleles

Multiple alleles occur when there are more than two alleles for a gene.
There are three common alleles (IA, IB and i) for human blood type:
● IA which is dominant to the allele i, but codominant to the allele
IB.
● IB which is dominant to the allele i, but codominant to the allele I A.
● i which is a recessive allele to the alleles I A and IB.
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ABO Blood Group Phenotypes

There are four possible

phenotypes for ABO Blood
groups:

Phenotype Genotype
O ii
A IAIA or IAi
B IBIB or IBi
AB IAIB Antigens for the ABO blood groups
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ABO Blood Group Problem

1.Create Key for Alleles
❓ Determine the maximum number of possible blood types for the children
of a mother with blood type A and a father with blood type B.

Allele Key
Students are expected to use the IA: A allele
standard notation for ABO blood group IB: B allele
alleles.
i: O Allele
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ABO Blood Group Problem
2. Write Phenotype and Genotype of the
Parents
Determine the maximum number of possible blood types for the children of a
mother with blood type A and a father with blood type B.
Blood type A can be IA IA or IA i.
Blood type B can be IB IB or IB i.
You can complete Punnett Squares for all possible combinations, but it should
be clear that IA i and IB i will produce the greatest number of genotypes.
Example: All of the genotypes produced using I A IA x IB i will also be present
when the heterozygotes (IA i x IB i) are crossed.
Therefore just cross IA i x IB i, because this will include all possible genotypes.
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ABO Blood Group Problem
2. Write Phenotype and Genotype of the
Parents
Determine the maximum number of possible blood types for the children
of a mother with blood type A and a father with blood type B.

Blood type A can be IA IA or IA i. Use IA i.

Blood type B can be IA IA or IA i. Use IB i.

Phenotype: AxB
Genotype: IA i x I B i
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ABO Blood Group Problem

3. Complete a Punnett Square
Phenotype: AxB
Genotype: IA i x I B i

IB i
IA IA IB IA i

i IB i ii
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ABO Blood Group Problem
4. Identify Genotype and Phenotype Ratios of
the Offspring
IB i
IA IA IB IA i

i IB i ii

Genotype 1 IA IB : 1 IA i : 1 IB i: 1 ii
Ratio:
Phenotype 1 AB : 1 A : 1 B : 1 O
Ratio:
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ABO Blood Group Problem

❓ Determine the maximum number of possible blood types for the children
of a mother with blood type A and a father with blood type B.

Genotype 1 IA IB : 1 IA i : 1 IB i: 1 ii
Ratio:
Phenotype 1 AB : 1 A : 1 B : 1 O
Ratio:
The maximum number of possible blood types (possible phenotypes) is 4.

Try completing the other genotype crosses (example I A i x IB i) to determine if any

other possible phenotypes appear.
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From
D3.2.10: Incomplete dominance and the IB

codominance

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 incomplete dominance, heterozygotes have an intermediate
phenotype. Include four o'clock flower or marvel of Peru (Mirabilis
jalapa) as an example.
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Incomplete Dominance and

Codominance

❓ Distinguish
between
incomplete
dominance
and
codominance
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Codominance
Codominance occurs when heterozygotes have a
dual phenotype.
Both alleles are dominant, and both are expressed
in the phenotype.
The inheritance of blood type AB (IAIB) is an
example of codominance.
The protein coded by both versions of the allele is
expressed as an antigen on the red blood cell for a Ia and IB antigens are expressed
person with an AB (IAIB) blood group. on blood cells of people with
the AB blood type.
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Incomplete Dominance
Incomplete dominance occurs when
heterozygotes have an intermediate
phenotype to homozygous
individuals.
Neither allele is dominant.
The inheritance of flower colour for
the four o’clock flower (Mirabilis
jalapa) is an example of incomplete
dominance.
Incomplete inheritance of flower colour in four o’clock flowers
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Incomplete Dominance
There are three phenotypes for flower
colour in four o’clock plants:
Red, when the plant has two red alleles
for flower colour.
White, when the plant has two white
alleles for flower colour.
Pink, when the plant is heterozygous for
flower colour.
Pink is the intermediate phenotype
Incomplete inheritance of flower colour in four o’clock flowers
between the red and white phenotypes.
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Notation for Incomplete Dominance and

Codominance
Incomplete
dominance continues
to use an uppercase
and lowercase letter
for the alleles.
Codominance uses an
uppercase letter for
the gene, and two
superscript uppercase
letters for the alleles.
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Incomplete Dominance Problem

1.Create Key for Alleles
❓ The flower colour of snapdragons shows incomplete dominance. Pink
snapdragons are produced when a red snapdragon reproduces with a
white snapdragon. Determine the percentage of pink snapdragons if a
pink plant reproduces with a white plant.

Flower colour in snapdragons is a incomplete Allele Key

dominant trait.
R: Red
The alleles will be written as uppercase letters.
R is a good choice for red colour. W White
W is a good choice for white colour
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Incomplete Dominance Problem
2. Write Phenotype and Genotype of the
Parents
The flower colour of snapdragons is a codominant trait. Pink snapdragons
are produced when a red snapdragon reproduces with a white
snapdragon. Determine the percentage of pink snapdragons if a pink
plant reproduces with a white plant.

Phenotype: Pink x White

The pink plant must be heterozygous. R W
The white plant must be homozygous, with two white alleles. W W

Genotype: RWxWW
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Incomplete Dominance Problem

3. Complete a Punnett Square
Phenotype: Pink x White
Genotype: RWxWW

W W
R RW RW
W WW WW
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Incomplete Dominance Problem
4. Identify Genotype and Phenotype Ratios of
the Offspring
W W
R RW RW
W WW WW
Genotype 1 R W: 1 W W
Ratio:
Phenotype 1 Pink : 1 White
Ratio:
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Incomplete Dominance Problem

❓ The flower colour of snapdragons shows incomplete dominance. Pink
snapdragons are produced when a red snapdragon reproduces with a
white snapdragon. Determine the percentage of pink snapdragons if a
pink plant reproduces with a white plant.

Genotype 1 R W: 1 W W
Ratio:
Phenotype 1 Pink : 1 White
Ratio:
According to the phenotype ratio, 50% (1 out of 2) of the
snapdragons will have a pink colour.
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Codominance Problem
1.Create Key for Alleles
❓ In chickens, the gene for feather colour is controlled by codominance.
The allele for black is B and the allele for white is W. The heterozygous
phenotype (black/white flecked chicken) is known as erminette.
Determine the percentage of black offspring if two erminette chickens
reproduce.
Feather colour in chickens is a codominant trait.
C is a good choice for the gene. Allele Key
The alleles will be written as uppercase letters. CB: Black
B is a good choice for black colour.
CW: White
W is a good choice for white colour
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Codominant Alleles
The IB uses superscripts when naming codominant alleles.
Both alleles use the same (uppercase) letter for the gene and take a
superscript uppercase letter for the allele.

Allele Key This means that possible

genotypes and phenotypes
CB: Black Feathers
are:
CB CB: Black Feathers
CW: White Feathers
CW CW: White Feathers
CB CW: Erminette
Feathers
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Codominance Problem
2. Write Phenotype and Genotype of the
Parents
In chickens, the gene for feather colour is controlled by codominance.
The allele for black is B and the allele for white is W. The heterozygous
phenotype is known as erminette . Determine the percentage of black
offspring if two erminette chickens reproduce.

Phenotype: Erminette x Erminette

Both chickens are erminette, and will be heterozygous. C B CW.

Genotype: CB C W x C B C W
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Codominance Problem
3. Complete a Punnett Square
Phenotype: Erminette x Erminette
Genotype: CB C W x C B C W

CB CW
CB CB CB CB CW
CW CB CW CW CW
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Codominance Problem
4. Identify Genotype and Phenotype Ratios of
the Offspring
CB CW
CB CB CB CB CW
CW CB CW CW CW
Genotype 1 CB CB : 2 CB CW : 1CW CW
Ratio:
Phenotype 1 Black: 2 Erminette: 1
Ratio: White
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Codominance Problem
❓ In chickens, the gene for feather colour is controlled by codominance.
The allele for black is B and the allele for white is W. The heterozygous
phenotype is known as erminette . Determine the percentage of black
offspring if two erminette chickens reproduce.

Genotype 1 CB CB : 2 CB CW : 1CW CW
Ratio:
Phenotype 1 Black: 2 Erminette: 1
Ratio: White
According to the phenotype ratio 1 out of 4 , 25%, of the offspring
are black (CB CB)
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From
D3.2.11: Sex determination in the IB

humans and inheritance of genes on

sex chromosomes
Students should understand that the sex chromosome in sperm
determines whether a zygote develops certain male-typical or female-
typical physical characteristics and that far more genes are carried by the
X chromosome than the Y chromosome.
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Sex Chromosomes and Autosomes
X and Y chromosomes are the sex chromosomes and
determine biological sex.
The X chromosome is longer than the Y chromosome and
contains many more genes.
The Y chromosome contains an SRY gene. If a human
embryo has an SRY gene, it will develop male-typical
characteristics.
The X chromosome does not contain an SRY gene. An
embryo with two X chromosomes does not have an SRY
gene, and develops female-typical characteristics. The X chromosome
has more genes than the Y
All other chromosomes apart from the sex chromosomes, chromosome

are autosomes.
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Sex Determination in Humans

Biological sex is
determined by
the sex
chromosomes.

❓ Outline how
biological sex is
determined in
humans.
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Sex Determination in Humans

In humans, females have two X chromosomes,
and males have an X and a Y chromosome.
All female gametes, eggs, will have one X
chromosome.
The male gametes, sperm, will have either the X
or the Y chromosome.
Eggs fertilized by a sperm with an X chromosome
will develop female-typical characteristics (XX).
Eggs fertilized by a sperm with a Y chromosome
will develop male-typical characteristics (XY). Sex Determination in Humans
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From
D3.2.12: Haemophilia as an example the IB

of a sex-linked genetic disorder

Show alleles carried on X chromosomes as superscript letters on an

uppercase X.
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Sex-Linked Traits
The sex chromosomes are homologous
chromosomes, and should have the same genes.
Sex-linked traits are traits where the allele is
present on only one sex chromosome (usually X).
The Y chromosome is much shorter than the X
chromosome. Therefore there are many genes that
are on the X chromosome, but not on the Y
chromosome.
Females will get 2 copies of these sex linked genes,
The X chromosome has more genes t
but males will only get one copy. han the Y chromosome
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Haemophilia: A Sex-Linked
Disorder
Haemophilia is an
example of a sex-
linked trait.
The gene is on
the X
chromosome, but
not on the Y
chromosome.
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Sex Linkage - Haemophilia

Haemophilia is a sex-linked disease caused by a mutation to a gene for
making the blood clotting factor XIII.

Males carry one copy of the gene on their X chromosome. There is no

allele on the Y chromosome.
Females carry two copies of the gene, one allele on each X chromosome.
More information on the disease haemophilia is available from the NHS
website.
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Haemophilia Allele Notation

Allele Key Since Haemophilia is a sex linked trait, the
chromosome (X or Y) must be written when
H: No Haemophilia
writing the genotypes, with the allele
h: Haemophilia written as a superscript.

Haemophilia genotypes and phenotypes

X Y: Normal Male
H XH XH: Normal Female
X Y: Haemophiliac
h XH Xh : Normal Female
Male (carrier)
Xh Xh : Haemophiliac
SL and HL Content

Sex Linked Problem

1.Create Key for Alleles
❓ Determine the chance of a father with haemophilia and a mother who does
not have haemophilia (who is homozygous for the trait) having a child with
haemophilia.

H is a good choice for the allele.

Allele Key
Don’t forget to write the allele as a
superscript on the X chromosome when H: No Haemophilia
writing the genotypes. h: Haemophilia
SL and HL Content
Sex Linked Problem
2. Write Phenotype and Genotype of the
Parents
Determine the chance of a father with haemophilia and a mother who does not
have haemophilia (who is homozygous for the trait) having a child with
haemophilia.
Haemophiliac man x Non-haemophiliac
Phenotype:
woman
The father has only one copy of the allele on the X chromosome. He
has haemophilia - Xh Y
The mother is not haemophiliac and is homozygous - XH XH

Phenotype: X h Y x X HX H
SL and HL Content

Sex Linked Problem

3. Complete a Punnett Square
Haemophiliac man x Non-haemophiliac
Phenotype:
woman
Phenotype: X h Y x X HX H

XH XH
Xh XH Xh XH Xh
Y XH Y XH Y
SL and HL Content
Sex Linked Problem
4. Identify Genotype and Phenotype Ratios of the
Offspring
XH XH
Xh XH Xh XH Xh
Y XH Y XH Y
Genotype
2XH Xh : 2 XH Y
Ratio:
Phenotype 2 non-haemophiliac females : 2 non-haemophiliac
Ratio: males
SL and HL Content

Sex Linked Problem

❓ Determine the chance of a father with haemophilia and a mother who does
not have haemophilia (who is homozygous for the trait) having a child with
haemophilia

Genotype
2XH Xh : 2 XH Y
Ratio:
Phenotype 2 non-haemophiliac females : 2 non-haemophiliac
Ratio: males

There is no chance of a child being born with haemophilia. Any girl born will not
have haemophilia, but she will be heterozygous, a carrier, for haemophilia.
SL and HL Content
D3.2.13: Pedigree charts to deduce From
the IB
patterns of inheritance of genetic
disorders
Students should understand the genetic basis for the prohibition of
marriage between close relatives in many societies.
Nature of Science: Scientists draw general conclusions by inductive
reasoning when they base a theory on observations of some but not all
cases.
A pattern of inheritance may be deduced from parts of a pedigree chart
and this theory may then allow genotypes of specific individuals in the
pedigree to be deduced.
Students should be able to distinguish between inductive and deductive
reasoning.
SL and HL Content

Pedigree Charts
A pedigree chart is
a diagram that
shows the
occurrence and
appearance of
phenotypes of a
particular gene or
organism and its
ancestors from
one generation to
the next.
SL and HL Content

Pedigree Symbols

Unaffecte Unaffecte
d Female d Male

Affected Affected
Female Male

Two
Parents
SL and HL Content

Pedigree Symbols

A female and male

I
reproduce

Three children are

II born.
Two boys and a girl
SL and HL Content

Pedigree Problem I

❓ Deduce, with reason, the type of trait shown in the pedigree.

SL and HL Content

Pedigree Problem I

This is a normal autosomal (not on a sex chromosome) trait, as it is almost

equally common for males and females.
The allele for the trait is recessive.
The couple 8 and 9 do not have the trait, but one of their children (17) does
have the trait. Both parents 8 and 9 must be heterozygous for the trait, and it
reappears in one of their children.
SL and HL Content

Pedigree Problem II

The pedigree shows

the inheritance of Tay
Sachs disease.
The recessive allele
for Tay Sachs is t.

A person with Tay Sachs disease is homozygous recessive

❓ Deduce, with reason, the genotype of person 5.

SL and HL Content

Pedigree Problem II

Person 5 has Tay Sachs

disease.
The allele for the
disease is recessive.

The person must have two copies of the allele in order for the Tay Sachs trait
to be expressed.
The person’s genotype is t t.
SL and HL Content

Pedigree Problem III

❓ Deduce, with reason, the type of trait shown in the pedigree.

SL and HL Content

Pedigree Problem III

The trait is sex linked on the X chromosome, as only males have the trait.
It is a recessive allele, as the first generation parents do not have the trait,
but one of their children has the trait.
SL and HL Content

Pedigree Problem IV

❓ Deduce, with reason, the type of trait shown in the pedigree.

SL and HL Content

Pedigree Problem IV
The allele for the
trait is dominant, as
This is a
the couple circled
normal
have the trait but
autosomal
their offspring do
(not on a sex
not.
chromosome)
trait, as it is If the trait was
almost equally recessive, the
common for offspring would
males and have the trait as
females. both parents must
be homozygous
recessive.
SL and HL Content

Pedigree Problem V

The pedigree shows the

inheritance of freckles.
The dominant allele for
freckles is F.

❓ Deduce, with reason, the genotype of the person circled.

SL and HL Content

Pedigree Problem V

The pedigree shows the

inheritance of freckles.
The dominant allele for
freckles is F.

The person does not have the freckles trait, so must have the genotype f f.
SL and HL Content

Pedigree Problem VI

The pedigree shows the

inheritance of freckles.
The dominant allele for
freckles is F.

❓ Deduce, with reason, the genotype of the person circled.

SL and HL Content

Pedigree Problem VI

The person has the trait freckles,

so must have at least one F allele.
One parent (II-6) does not have
freckles, and must be f f, so will
give the child a recessive f allele.

Person III - 5 must have the genotype F f.

SL and HL Content

Pedigree Problem VII

The trait is sex-linked as it only
appears in males.
The allele will be on the X
chromosome.
The allele is recessive as the
trait appears in children of
parents without the trait.

❓ Deduce, with reason, the type of trait shown in the pedigree.

SL and HL Content

Pedigree Problem VIII

The pedigree shows the

inheritance of color
blindness, a sex-linked
trait.
The recessive allele for
color blindness is b.

❓ Deduce, with reason, the genotype of the person II-3

SL and HL Content

Pedigree Problem VIII

The person is male and must

have an X and a Y
chromosome.
As a male, he will have one
copy of the allele for colour
blindness, as it is only on the
X chromosome.

Since he has the disease, he must have a copy of the recessive allele, b.
His genotype must be Xb Y.
SL and HL Content

Genetics Problems Review

Practicing genetics inheritance questions is important.
Some resources for practice questions are:
● Monohybrid Practice Questions.
● Sex Linked Practice Questions.
● Amoeba Sisters review video - SL students should ignore
questions on dihybrid crosses. HL will work on dihybrid crosses
within the HL section of this presentation.
● Past IB Biology Exam papers – especially Paper 1. Genetic
inheritance questions also sometimes appear on Paper 2.
SL and HL Content

Inductive and Deductive

Reasoning
Inductive and
deductive
reasoning can be
used in science.

❓ Distinguish
between
inductive and
deductive
reasoning.
SL and HL Content

Inductive Reasoning
Inductive reasoning involves drawing
general conclusions from specific
observations or evidence.
Inductive reasoning moves from the
specific to the general, using examples
or observations to infer a broader
pattern or hypothesis.
Scientists draw general conclusions by
inductive reasoning when they base a
theory on observations of some but not
Inductive and deductive reasoning
all cases.
SL and HL Content

Deductive Reasoning
Deductive reasoning involves deriving
specific conclusions from general
premises or principles.
Deductive reasoning moves from the
general to the specific, using established
principles or premises to reach a
specific, logical conclusion.
Pattern of inheritance may be deduced
from parts of a pedigree chart and this
theory may then allow genotypes of
specific individuals in the pedigree to be Inductive and deductive reasoning

deduced.
SL and HL Content
From
D3.2.14: Continuous variation due the IB

to polygenic inheritance and/or

environmental factors
Use skin colour in humans as an example.
Application of skills: Students should understand the distinction
between continuous variables such as skin colour and discrete variables
such as ABO blood group.
They should also be able to apply measures of central tendency such as
mean, median and mode.
SL and HL Content

Polygenic Inheritance
Polygenic
inheritance is a
single
characteristic
controlled by
multiple genes.
Human skin
colour is an
example of a
polygenic
inheritance.
SL and HL Content

Inheritance of Skin Colour in

Humans
Skin colour depends on the amount and type
of melanin present in the skin.
Melanin is a brown protein pigment.
There are at least four genes which control
the amount of melanin present in the skin.
Each gene has multiple alleles, which may
promote or inhibit melanin production.
The alleles may be codominant.
Human Skin Colours
The inheritance of skin colour in humans is a
polygenic trait.
SL and HL Content

Discrete and Continuous

Inheritance
Discrete variation results from one gene being responsible for a trait.
All individuals fit into a number of non-overlapping phenotypes.
ABO blood groups and haemophilia are examples of discrete variation
Continuous variation results from polygenic inheritance, where multiple
genes determine the phenotype. Environmental factors also contribute
to continuous variation.
Continuous variation produces a range of overlapping phenotypes
between two extremes.
Human skin colour and height are examples of continuous variation.
SL and HL Content

Mean, Median and Mode

Students should
understand how
to determine the
mean, median
and mode from a
set of data.
SL and HL Content
From
D3.2.15: Box-and-whisker plots to the IB

represent data for a continuous

variable such as student height

Application of skills: Students should use a box-and-whisker plot to

display six aspects of data: outliers, minimum, first quartile, median,
third quartile and maximum.
A 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.
SL and HL Content

Box-and-Whisker Plots
Box and whisker
plots represent the
spread of data for
a continuous
variable.
❓ Outline the
information
that can be
taken from a
box and
whisker plot.
SL and HL Content

Box-and-Whisker Plots
The minimum and maximum
values are at the ends of each
whisker.
The median value for the data is
within the box.
The lower quartile (Q1) and
upper quartile (Q2) values are
at either end of the box.
The length of the box represents Box-and-whisker plot

the interquartile range.

SL and HL Content

Outliers
An outlier is a data point that differs
significantly from other data points.
A 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.
Outliers are removed from the data
set, and a box and whisker plot is
constructed without the outliers. Outliers on a box-and-whisker plot

The outliers are indicated on the new

graph by an *.
SL and HL Content

Review and Discuss: SL & HL Key

Terms
Haploid Allele
Diploid Genotype
Gamete Phenotype
Zygote Homozygous
P Generation Heterozygous
F1 Generation Dominant Allele
F2 Generation Recessive Allele
Gene Phenotypic Plasticity
SL and HL Content

Review and Discuss: SL & HL Key

Terms
Gene Expression Incomplete Dominance
Phenylketonuria Codominance
Gene Pool Sex Chromosomes
Mutation Autosomes
Base Substitution Mutation Haemophilia
Single-Nucleotide Polymorphism Sex-Linked Trait
Multiple Alleles Pedigree
ABO Blood Groups Pedigree Chart
SL and HL Content

Review and Discuss: SL & HL Key

Terms
Polygenic Inheritance Minimum
Continuous Variation Maximum
Discrete Variation First Quartile
Melanin Third Quartile
Mean Interquartile Range
Median Outlier
Mode
Box-and-Whisker Plot
SL and HL Content
From
D3.2 Inheritance - IB Linking the IB

Questions

What are the principles of effective sampling in biological research?

What biological processes involve doubling and halving?
Additional
HL
Conte
nt
HL Content Only

Additional HL Content: From

the IB
D3.2 Inheritance
D3.2.16: Segregation and independent assortment of unlinked genes in
meiosis
D3.2.17: D3.2.17—Punnett grids for predicting genotypic and
phenotypic ratios in dihybrid crosses involving pairs of unlinked
autosomal genes
D3.2.18: Loci of human genes and their polypeptide products
D3.2.19: Autosomal gene linkage
HL Content Only

Additional HL Content: From

the IB
D3.2 Inheritance
D3.2.20: Recombinants in crosses involving two linked or unlinked genes
D3.2.21: Use of a chi-squared test on data from dihybrid crosses
HL Content Only

HL Only Key Terms

Independent Assortment Test Cross
Linked Genes Chi-Squared Test
Unlinked Genes Null Hypothesis
Dihybrid Cross Alternative Hypothesis
Homologous Chromosomes Statistical Significance
Meiosis Sample Replication
Gene Locus / Loci
Recombinants
HL Content Only
From
D3.2.16: Segregation and the IB
independent assortment of
unlinked genes in meiosis
Students should understand the link between the movements of
chromosomes in meiosis and the outcome of dihybrid crosses involving
pairs of unlinked genes.
HL Content Only

Homologous Chromosomes
Homologous chromosomes carry the same
sequence of genes but not necessarily the same
alleles of those genes.
Homologous chromosomes pair during prophase I of
meiosis I.
The homologous chromosomes are randomly
assorted, as they line up along the equator of the cell
during metaphase I.
The homologous chromosomes are separated during
anaphase I. Homologous Chromosomes
HL Content Only

Segregation and Independent

Assortment
Mendel's second law, the Law of Independent
Assortment states that the alleles of two (or more)
different genes get sorted into gametes
independently of one another.
The segregation of homologous chromosomes
during meiosis I, also separates the two alleles on
homologous chromosomes.
If two or more genes are on different
chromosomes, their alleles will be independently
assorted. Metaphase I of Meiosis
HL Content Only
D3.2.17: Punnett grids for From
the IB
predicting genotypic and
phenotypic ratios in dihybrid
crosses involving pairs of unlinked
autosomal genes
Students should understand how the 9:3:3:1 and 1:1:1:1 ratios are
derived.
Nature of Science: 9:3:3:1 and 1:1:1:1 ratios for dihybrid crosses are
based on what has been called Mendel’s second law.
This law only applies if genes are on different chromosomes or are far
apart enough on one chromosome for recombination rates to reach
50%. Students should recognize that there are exceptions to all
biological “laws” under certain conditions.
HL Content Only

Dihybrid Crosses

A dihybrid cross is
a cross between
two individuals
with two
observed traits.
HL Content Only

Dihybrid Crosses
Gregor Mendel investigated a dihybrid cross between a pure breeding
pea plant with round, yellow seeds and a pure breeding pea plant with
wrinkled, green seeds.
All of the F1 offspring had yellow, round seeds.
❓ Identify the dominant alleles from both traits.

Yellow seed colour and round seed shape are the dominant alleles as
both appear in the F1 generation.
HL Content Only

Dihybrid Cross Problem

1.Create key for Alleles
❓ Mendel crossed two F1 offspring (round, yellow seeds - heterozygous
for both traits). Determine the expected phenotype ratio for the
cross.

Yellow is dominant. Round is dominant. Allele Key

Green is recessive. Wrinkled is recessive. Y : Yellow
Y is a good choice of R is a good choice of y : Green
letter for the seed color letter for the seed shape R : Round
gene. gene.
r : Wrinkled
HL Content Only
Dihybrid Cross Problem
2. Write Phenotype and Genotype of the
Parents
Mendel crossed two F1 offspring (round, yellow seeds - heterozygous
for both traits). Determine the expected phenotype ratio for the cross
Phenoty
Round Yellow x Round Yellow
pe:
Both parents are heterozygous for both traits. The genotype for both F1
plants must be RrYy
Genotyp
RrYy x RrYy
e:
HL Content Only
Dihybrid Cross Problem
3. Complete a Punnett Square
Genotyp
RrYy x RrYy
e:
The possible gamete genotypes need to be identified for each parent.
One copy of each gene will be present in the gametes.
In this case both parents have the same genotype, so they will produce
the same range of gametes.
Possible gametes from RrYy are:

RY Ry rY ry
HL Content Only
Dihybrid Cross Problem
3. Complete a Punnett Square
Genotyp
RrYy x RrYy
e:

RY Ry rY ry
RY RR YY RR Yy Rr YY RrYy
Ry RR Yy RR yy Rr Yy Rr yy
rY Rr YY Rr Yy rr YY rr Yy
ry Rr Yy Rr yy rr Yy rr yy
HL Content Only
Dihybrid Cross Problem
4. Identify Phenotype Ratio of the
Offspring
RY Ry rY ry
RY RR YY RR Yy Rr YY RrYy
Ry RR Yy RR yy Rr Yy Rr yy
rY Rr YY Rr Yy rr YY rr Yy
ry Rr Yy Rr yy rr Yy rr yy
The phenotype ratio is:
9 Round Yellow 3 Round Green 3 Wrinkled Yellow 1 Wrinkled Green
HL Content Only

9:3:3:1 Phenotype Ratio

A dihybrid cross between two

heterozygous individuals for both
traits will always have an expected
phenotype ratio of 9:3:3:1.

This is the expected phenotype ratio

based on Mendel’s Law of
Independent Assortment as the
alleles of two (or more) different
genes get sorted into gametes
independently of one another. Phenotype Ratio of 9:3:3:1
HL Content Only

Dihybrid Cross Problem

1.Create Key for Alleles
❓ Mendel crossed an F1 offspring (round yellow seeds - heterozygous
for both traits) with a pea plant with wrinkled green seeds.
Determine the expected phenotype ratio for the cross.

Yellow is dominant. Round is dominant. Allele Key

Green is recessive. Wrinkled is recessive. Y : Yellow
Y is a good choice of R is a good choice of y : Green
letter for the seed colour letter for the seed shape R : Round
gene. gene.
r : Wrinkled
HL Content Only
Dihybrid Cross Problem
2. Write Phenotype and Genotype of the
Parents
Mendel crossed an F1 offspring (round yellow seeds - heterozygous for
both traits) with a pea plant with wrinkled green seeds. Determine the
expected phenotype ratio for the cross.
Phenoty
Round Yellow x Wrinkled Green
pe:
The heterozygous plant for both traits must be RrYy
The plant with wrinkled green seeds must be rryy (homozygous
recessive for both traits) as both traits are recessive and expressed.
Genotyp
RrYy x rryy
e:
HL Content Only
Dihybrid Cross Problem
3. Complete a Punnett Square
Genotyp
RrYy x rryy
e:
The possible gamete genotypes need to be identified for both parent.
One copy of each gene will be present in the gametes.
In this case the heterozygous plant (RrYy) will produce these gametes:

RY Ry rY ry

There is only one possible gamete allele combination for the

homozygous recessive plant (rryy):
ry
HL Content Only
Dihybrid Cross Problem
3. Complete a Punnett Grid
Genotyp
RrYy x rryy
e:

RY Ry rY ry
ry Rr Yy Rr yy rr Yy rr yy

You only require one row for this Punnett Grid.

HL Content Only
Dihybrid Cross Problem
4. Identify Phenotype Ratio of the
Offspring
RY Ry rY ry
ry Rr Yy Rr yy rr Yy rr yy
The phenotype ratio is:
1 Round Yellow 1 Round Green 1 Wrinkled Yellow 1 Wrinkled Green

A dihybrid cross between an individual heterozygous for both traits and an

individual homozygous recessive for both traits will always have an expected
phenotype ratio of 1:1:1:1
HL Content Only
Exceptions to Mendel’s Law
The expected phenotype ratios of 9:3:3:1 and 1:1:1:1 are not always observed
when crosses are carried out.
One of the traits may be codominant or sex-linked, which would result in
observed phenotype ratios being different than the predicted phenotype ratios.
If the genes for the traits investigated are on the same chromosome, then they
will not be independently assorted, as they will be linked together during the
segregation of homologous chromosomes in meiosis.
Nature of Science:
There are exceptions to all biological “laws” under certain conditions.
If genes are linked, Mendel’s Law of Independent Assortment does not
correctly predict the expected phenotype ratio.
HL Content Only
From
D3.2.15: Loci of human genes and the IB

their polypeptide products

Application of skills: Students should explore genes and their

polypeptide products in databases.
They should find pairs of genes with loci on different chromosomes and
also in close proximity on the same chromosome.
HL Content Only

Gene Locus

A gene locus is
the specific
location on a
chromosome of a
particular gene.
The OMIM
database has
gene loci for all
human genes.
HL Content Only

Gene Locus: SRY Gene

Go to the OMIM website.
Search for the “SRY gene” on the website. (Use “ ” for the search). Click
on the hyperlink for the gene.
❓ Identify the gene locus (location) and the polypeptide product of this
gene.
The gene locus is Yp11.2
The SRY gene encodes for a DNA binding protein which causes the
gonads to differentiate into testes. Careful reading of the text is required
to locate the polypeptide product. Pay close attention to the sections
describing the gene, and its phenotype.
HL Content Only

Gene Locus: SRY Gene

❓ Suggest
The gene
why the
locus is here.
gene locus
begins with
Y.

Gene loci always begin with the first digit or letter of the number/name
of the chromosome. In this case, the Y-chromosome.
Click on the gene locus to discover neighbouring genes.
HL Content Only

Gene Loci
Consider investigating the following genes:
● CFTR - a gene that codes for a chloride channel and is associated with
cystic fibrosis.
● HBB - a gene that codes for beta-globins in haemoglobin and is
associated with sickle cell anemia.
● FB - a gene that codes for a factor required for blood clotting and is
associated with haemophilia.
HL Content Only
From
D3.2.19: Autosomal gene linkage the IB

In crosses involving linkage, the symbols used to denote alleles should

be shown alongside vertical lines representing homologous
chromosomes.
Students should understand the reason that alleles of linked genes can
fail to assort independently
HL Content Only

Autosomal Gene Linkage

The loci of linked genes are close
together on the same
chromosome, making them likely
to be inherited together.
Assuming no crossing over occurs,
independent assortment does not
occur.
The linked genes will be
Linked genes are on the same chromosome
segregated together on the same
chromosome during anaphase I of
meiosis. Read the linked article on linked genes.
HL Content Only

Notation for Linked Genes

Two lines are used to represent the

A B
homologous chromosomes.
a b
The dominant alleles A and B are linked
(on the same chromosome), so they will
be on the same line. A a
The recessive alleles a and b are linked, so
they will be on the same line.
B b
HL Content Only

Linked Genes and Crossing Over

Linked Genes are usually found together in A B
the gametes produced by meiosis as they
are on the same chromosome.
a b
Gametes produced
without crossing over

However, if crossing over occurs during A b

meiosis, the linked alleles will be
separated.
Recombinant gametes are produced due a B
Gametes produced
to crossing over. with crossing over
HL Content Only
From
D3.2.20: Recombinants in crosses the IB

involving two linked or unlinked

genes
Students should understand how to determine the outcomes of crosses
between an individual heterozygous for both genes and an individual
homozygous recessive for both genes
HL Content Only
A Dihybrid Cross with Linked
Genes
The gene for flower colour and the gene for pollen shape are on the
same chromosome in sweet pea plants. The genes are linked.

Purple flower color is dominant to

red flower color.
Long pollen shape is dominant to
round pollen shape.

A sweet pea plant

HL Content Only

Create Key for Alleles

❓ A pure breeding sweet pea plant with purple flowers and long pollen
shape is crossed with a pure breeding sweet pea plant with red flowers
and round pollen shape. Determine the expected phenotype ratio.

Purple color is dominant. Long pollen is dominant. Allele Key

Red color is recessive. Round pollen is F : Purple
F is a good choice of recessive. f : Red
letter for the flower color L is a good choice of L : Long
gene. letter for the pollen
shape gene. l : Round
HL Content Only

Phenotype and Genotype of the Parents

Purple flowers and X Red flowers and

long pollen shape round pollen shape

Purple flowers and long pollen Red flowers and round pollen alleles
alleles are linked. are linked.
Both alleles are dominant. Both alleles are recessive.

F L f l
X
F L f l
HL Content Only

Identify Phenotype of Offspring

Purple flowers and X Red flowers and

long pollen shape round pollen shape

Purple flowers and long pollen Red flowers and round pollen
alleles produce one possible alleles produce one possible
gamete genotype. gamete genotype.

F L X f l
HL Content Only

Identify Phenotype of Offspring

Purple flowers and X Red flowers and

long pollen shape round pollen shape

All of the F1 plants have purple flowers and long pollen shape, but will
be heterozygous for both traits

All of the F1 plants are hybrids and will have the following genotype:

F L
f l
HL Content Only

Test cross
A test cross is carried out on the hybrid plants produced.
One of the heterozygous F1 plants is crossed with a plant which
expresses the recessive traits (red flowers and round pollen).
A test cross involves an organism with the dominant traits crossed
against a homozygous recessive organism.

❓ Determine the expected phenotype ratio from the test cross

The expected phenotype ratio is 1:1:1:1, as one plant is heterozygous for

both traits, and the other plant is homozygous recessive for both traits.
HL Content Only

Phenotype and Genotype of the Parents

Purple flowers and Red flowers and
X
long pollen shape round pollen shape

The plant with purple flowers and The plant with red flowers and
long pollen is heterozygous for round pollen is homozygous for
both traits. both traits as they are recessive.

F L f l
X
f l f l
HL Content Only
Genotypes of Test Cross Gametes without
Crossing Over
Purple flowers and Red flowers and
X
long pollen shape round pollen shape

The alleles are linked on the There is only one possible gamete
chromosome, producing two genotype, as all alleles are
gamete genotypes. recessive.

F L
X f l
f l
HL Content Only
Genotypes of Test Cross Offspring without
Crossing Over
There are two possible phenotypes for the offspring if crossing over does
not occur.

F L f l
f l f l

Purple Flowers with Red Flowers with

Long Pollen Round Pollen
Most of the offspring produced will have one of these two genotypes.
HL Content Only
Genotypes of Test Cross Gametes with Crossing
Over
Purple flowers and Red flowers and
X
long pollen shape round pollen shape

The alleles cross over producing There is only one possible gamete
another two possible gamete genotype, as all alleles are
genotypes. recessive.

F l
X f l
f L
HL Content Only
Genotypes of Test Cross Offspring with Crossing
Over
There are two possible genotypes for the offspring if crossing over does
occur.

F l f L
f l f l

Purple Flowers with Red Flowers with

Round Pollen Long Pollen
Crossing over is a relatively rare event.
A small number of these recombinant offspring will be produced
HL Content Only

Observed Data from the Test Cross

The following data was collected from the test cross.

Phenotype Number of Offspring with Traits

Purple, long 1358
Purple, round 539
Red, long 593
Red, round 1338

❓ Identify, with reason, the recombinant offspring.

HL Content Only

Observed Data from the Test Cross

The recombinant offspring will occur in much smaller
numbers.
Phenotype Number of Offspring with Traits
Purple, long 1358
Purple, round 539
Red, long 593
Red, round 1338

The recombinant offspring are:

Purple flowers with round pollen and red flowers with
long pollen.
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From
D3.2.21: Use of a chi-squared test the IB

on data from dihybrid crosses

Students should understand the concept of statistical significance, the p
= 0.05 level, null/alternative hypothesis and the idea of observed versus
expected results.
Nature of Science: Students should recognize that statistical testing
often involves using a sample to represent a population. In this case the
sample is the F2 generation.
In many experiments the sample is the replicated or repeated
measurements.
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Chi Squared Tests and Dihybrid

Crosses
A chi-squared test is used to determine if the difference between the
observed and expected values is significant, using the following formula:
The formula for a chi-squared test is:

If the difference between observed and expected values is significant, it

suggests that the genes may be linked.
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Procedure for a Genetics Chi-Squared

The following steps are followedTest
when carrying out a chi-squared test in
genetics:
1. Collect data for the observed values.
2. Identify the null and alternative hypotheses.
3. Calculate the expected phenotype proportion for the cross (using a
Punnett square).
4. Calculate the expected values for the cross using the expected ratio
and total number of offspring.
5. Calculate the chi-squared value.
6. Determine the degrees of freedom.
7. Determine which hypothesis to accept, using the critical value from
a chi-squared table.
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A Chi-Squared Analysis of a Dihybrid

Cross
In the garden pea, the allele for tall plants (T) is dominant to the allele
for dwarf plants (t), and the allele for yellow seeds (Y) is dominant to the
allele for green seeds (y).

A plant that is heterozygous for both traits (Tt Yy) is crossed with a dwarf
plant that has green seeds (tt yy).

The results of the cross are on the next slide.

❓ Use a chi-squared test to determine if there is a significant difference

between the observed and expected values for the cross.
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1.Data for Observed Values

The following data was collected for the cross:

Phenotype Observed (O)

Tall yellow 31
Tall green 26
Dwarf yellow 29
Dwarf green 26
Total number 112

These observed values (O) will be used in the chi-squared calculation.

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2. Identify the Null and Alternative
Hypotheses
Null Hypothesis (H0) =The expected values for the cross are not
significantly different than observed values. P > 0.05
Alternative Hypothesis (H1) = The expected values for the cross are
significantly different than observed values. P < 0.05

If the values are significantly different for a dihybrid cross, this means the
independent assortment for alleles did not occur.
This suggests that the genes may be linked.
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3. Calculate the Expected Phenotype
Proportion
Construct a Punnett grid using the information from the cross.

TY Ty tY ty
ty Tt Yy Tt yy tt Yy tt yy

The expected results are:

1/4 tall plant with yellow seeds:
1/4 tall plant with green seeds:
1/4 dwarf plant with yellow seeds.
1/4 dwarf plant with green seeds.
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4. Calculate the Expected Values

Calculate the expected values by taking the total number of plants
multiplied by the expected proportion for each phenotype.

Expected
Phenotype Observed (O) Expected (E)
Proportion
Tall yellow 31 ¼ 28
Tall green 26 ¼ 28
Dwarf yellow 29 ¼ 28
Dwarf green 26 ¼ 28
Total Number 112
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5. Calculate the Chi-Squared
Value
Use the observed (O) and expected (E) values to calculate chi-squared .

Tall Yellow Tall Green Dwarf Yellow Dwarf Green

Observed (O) 31 26 29 26
Expected (E) 28 28 28 28
(O-E)2/E (31 - 28)2 / 28 (26 - 28)2 / 28 (29 - 28)2 / 28 (26 - 28)2 / 28
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5. Calculate the Chi-Squared
Value
Use the observed (O) and expected (E) values to calculate chi-squared .

Tall Yellow Tall Green Dwarf Yellow Dwarf Green

Observed (O) 31 26 29 26
Expected (E) 28 28 28 28
(O-E)2/E 0.32 0.14 0.04 0.14

Chi-squared (𝛘2) = 0.32 + 0.14 + 0.04 + 0.14

Chi-squared (𝛘2) = 0.64
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6. Determine the Degrees of
Freedom
Determine the degrees of freedom using the formula:
n-1
n is the number of categories.
In this case you have 4 categories of phenotypes (n), therefore n = 4.
The degrees of freedom is:

(4 -1) = 3
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7. Determine the Hypothesis to
Accept
We have calculated the degrees of freedom as 3.

The P value 0.05 is usually used for statistical analysis.

The critical value is 7.815

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7. Determine the Hypothesis to
Accept

The critical value is 7.815

Chi-squared (𝛘2) = 0.64

𝛘2 (0.64) is smaller than the critical value (7.815)

Therefore P > 0.5. The null hypothesis is accepted.

HL Content Only
7. Determine the Hypothesis to
Accept
𝛘2 (0.64) is smaller than the critical value (7.815)

Therefore P > 0.5. The null hypothesis is accepted.

There is no statistically significant difference between the observed
(O) and expected (E) values.

The alleles are independently assorted, and the genes are not
linked.
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Example II:
A Chi-Squared Analysis of a Dihybrid
Cross
Two sweet pea plants which are heterozygous for flower colour and
shape of pollen were crossed.
Purple flower color (F) is dominant to red flower color (f).
Long pollen shape (L) is dominant to round pollen shape (l)

❓ Determine if the results (on the next slide) are due to the
independent assortment of alleles.
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1.Data for Observed Values

The following data was collected for the cross:

Phenotype Observed (O)

Purple, long 1358
Purple, round 539
Red, long 593
Red, round 1338
Total 6952

These observed values (O) will be used in the chi-squared calculation.

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2. Identify the Null and Alternative
Hypotheses
Null Hypothesis (H0) = The expected values for the cross are not
significantly different than observed values. P > 0.05

Alternative Hypothesis (H1) = The expected values for the cross are
significantly different than observed values. P < 0.05

If the values are significantly different for a dihybrid cross, this means the
independent assortment for alleles did not occur.

This suggests that the genes may be linked.

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3. Calculate the Expected Phenotype
Proportion
Construct a Punnett grid using the information from the cross.

FL Fl fL fl
FL FF LL FF Ll Ff LL Ff Ll
Fl FF Ll FF ll Ff Ll Ff ll
fL Ff LL Ff Ll ff LL ff Ll
fl Ff Ll Ff ll ff Ll ff ll

9/16 Purple, Long 3/16 Purple, Round 3/16 Red, Long 1/16 Red, Round
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4. Calculate the Expected Values

Calculate the expected values (E) by taking the total number of plants
multiplied by the expected proportion.

Observed Expected
Phenotype Expected (E)
(O) Proportion
Purple, Long 4831 9/16 3910.5
Purple, Round 390 3/16 1303.5
Red, Long 393 3/16 1303.5
Red, Round 1338 1/16 434.5
Total Number 6952
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5. Calculate the Chi-Squared
Value
Use the observed (O) and Expected (E) values to calculate chi-squared:
Purple Purple Red Red
Long Round Long Round
Observed (O) 4931 390 393 1388
Expected (E) 3910.5 1303.5 1303.5 434.5
(4931 - (390 - (393 - (1388 -
(O-E)2/E 3910.5)2 / 1303.5)2 / 1303.5)2 / 434.5)2 / 434.5
3910.5 1303.5 1303.5
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5. Calculate the Chi-Squared
Value
Use the observed (O) and Expected (E) values to calculate chi-squared:
Purple Purple Red Red
Long Round Long Round
Observed (O) 4931 390 393 1388
Expected (E) 3910.5 1303.5 1303.5 434.5
(O-E)2/E 266.3 610.2 633.9 2008.0

Chi-squared (𝛘2) = 266.3 + 640.2 + 633.9 + 2008.0

Chi-squared (𝛘2) = 3548.4
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6. Determine the Degrees of
Freedom
Determine the degrees of freedom using the formula:
n-1
n is the number of categories.
In this case you have 4 categories of phenotypes (n), therefore n = 4.
The degrees of freedom is:

(4 -1) = 3
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7. Determine the Hypothesis to
Accept
We have calculated the degrees of freedom as 3.

The P value 0.05 is usually used for statistical analysis.

The critical value is 7.815

HL Content Only
7. Determine the Hypothesis to
Accept

The critical value is 7.815

Chi-squared (𝛘2) = 3548.4

𝛘2 (3548.4) is greater than the critical value (7.815)

Therefore P < 0.5. The alternative hypothesis is accepted.

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7. Determine the Hypothesis to
Accept

𝛘2 (3548.4) is greater than the critical value (7.815)

Therefore P < 0.5. The alternative hypothesis is accepted

There is a statistically significant difference between the observed (O) and

expected (E) values.

This suggests that the alleles are not independently assorted, and the genes
are probably linked.
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Chi-Squared Practice Question

Solve the chi-

squared
problem in this
video.
The solution is
on the video on
the next slide
SL and HL Content

Chi-Squared Test and Dihybrid

Crosses

Check your
answer using this
video.
SL and HL Content

Practice Problems
You probably need to practise problems involving the 𝛘2.
Here are some options:
● The linked worksheet includes dihybrid crosses and a question on
linked genes.
● Science Corner chi-squared problems.
● Two more chi-squared examples are included in this video. Try to
solve the problems, before looking at the solutions in the video.
SL and HL Content

Statistical Significance (p = 0.05)

In biological investigations, a p value of smaller than 0.05 (5%) is usually
considered statistically significant.
P = 0.05 refers to the probability of the results occurring by chance being
less than 1 in 20.
The smaller the value of P the more confidence we have that the results
are statistically significant (not coincidental).
Why is 0.05 the statistically significant value? Read the linked article to
find out.
SL and HL Content

Sample Replication
Nature of Science:
Statistical testing often involves using a sample to represent a
population, as there may not be enough time to include all members of
the population. In this case the sample is the F2 generation.
In many experiments the sample is the replicated or repeated
measurements.
Ensure that you have at least 5 replicates for continuous data for
experiments, so that you can calculate standard deviations.
Ensure that you have at least 10 replicates for discontinuous data for
experiments, so that you can carry out a t-test.
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HL Only Key Terms

Independent Assortment Test Cross
Linked Genes Chi-Squared Test
Unlinked Genes Null Hypothesis
Dihybrid Cross Alternative Hypothesis
Homologous Chromosomes Statistical Significance
Meiosis Sample Replication
Gene Locus / Loci
Recombinants
SL and HL Content
From
D3.2 Inheritance - IB Linking the IB

Questions

What are the principles of effective sampling in biological research?

What biological processes involve doubling and halving?
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