D3.

1
IB Biology

INHERITANCE
 Learning objective
To understand the mechanism for inheritance in sexual
reproductive organisms.

IT ’S
UN O Guiding questions
IN F What patterns of inheritance exist in plants and animals?

What is the molecular basis for inheritance patterns?

HAPLOID GAMETES AND
DIPLOID ZYGOTES
In a sexual life cycle, parents pass genes to offspring in gametes.
This is the basis of inheritance. Gametes are haploid—they contain
one chromosome of each type, whether they are male or female.

This means male and female parents make an equal genetic

contribution to their offspring. When male and female gametes
fuse, their nuclei join together, doubling the chromosome number.

Thus, the nucleus of the zygote contains two chromosomes of

each type—it is diploid.
 GENETIC CROSSES
IN FLOWERING PLANTS
Pollen is transferred from the anthers of one plant (the male
parent) to the stigmas of another plant (the female parent). A
paint brush can be used to perform the cross by transfer of pollen
or an anther with pollen can be dabbed directly onto the stigma.

Other sources of pollen must be prevented from reaching the

stigma. This can be achieved by cutting off all the anthers of the
same flower before their pollen becomes mature.

The flower must then be enclosed in a paper bag, to prevent insects

or wind transferring pollen to the stigma from other flowers on the
same or other plants.

Transfer of pollen from an anther on a plant to a stigma on the

same plant is self-pollination and it results in self-fertilization,
rather than a cross between two varieties.
 GENETIC CROSSES
IN FLOWERING PLANTS
The parents are known to geneticists as the P generation and the
offspring inside the seeds as the F1 (first filial) generation. Offspring
of the F1 are the F2 (second filial) generation.

Gregor Mendel’s crosses with pea plants were the first to reveal
the basic pattern of inheritance. For example, he crossed tall plants
with dwarf pea plants and white-flowered plants with purple-
flowered plants.

He counted the number of each variety in the offspring and

calculated ratios.
COMBINATION OF
ALLELES INHERITED
Different versions of a gene can exist. They are called alleles of
the gene. Alleles may differ by as little as one base in the base
sequence of the gene or by large sections. New alleles of a gene
are generated by mutation.

There could be two copies of one allele, or two different alleles.

For example, for a gene with the alleles D and d, an individual
could have DD, dd or Dd. Combinations of alleles such as these are
known as genotypes.
COMBINATION OF
ALLELES INHERITED
If a parent’s genotype is DD, all gametes produced by them will
contain a single copy of allele D. Similarly, all the gametes
produced by a parent with the genotype dd will have one allele d.

Individuals with the genotypes DD and dd are homozygous

because all the gametes they produce have the same allele of this
gene.

If a parent’s genotype is Dd, 50% of their gametes will have allele

D and 50% will have allele d. Individuals with the genotype Dd are
heterozygous, because they produce gametes with different
alleles of the gene.
 OBSERVABLE TRAITS
OF AN ORGANISM
The phenotype of an organism is its observable traits or
characteristics. Phenotype includes structural characteristics such
as whether hair is curly or straight and functional traits such as the
ability to distinguish red and green colours. “Observable” means
that the trait is visible or detectable with tests.

Most phenotypic traits are due to the interaction between the

genotype of an organism and the environment in which it exists,
but there are some determined solely by genotype and some solely
by environmental factors.
DOMINANT OR
RECESSIVE ALLELES
Gregor Mendel is regarded by most biologists as the father of
genetics. He used pea plants (Pisum sativum) for his research. He
chose clear characteristics such as red or white flower colour that
can easily be followed from one generation to the next.

Pea plants can be crossed to produce hybrids between two

varieties or they can be allowed to self-pollinate.

Mendel investigated the inheritance of seven traits which each

had two forms — for example, height (tall or dwarf) and seed
shape (smooth or wrinkled).

He observed that if allowed to self-pollinate, a pea plant’s

offspring had the same traits as its parent. Mendel developed
many different “pure-breeding” varieties that produced offspring
with the same traits, generation aſter generation, if they were
self-pollinated.
DOMINANT OR
RECESSIVE ALLELES
Mendel then used cross-pollination to produce hybrid offspring of
pairs of varieties. For example, he crossed a tall variety of pea
with a dwarf variety. He also crossed a wrinkled-seeded with a
smooth-seeded variety.

We might expect the offspring to be intermediate between the

two parents. This would be called blending inheritance. It is not
what Mendel found.
DOMINANT OR
RECESSIVE ALLELES
In each of Mendel’s crosses between different varieties of pea
plant, the offspring were not intermediate in character and
instead had the character of one of the parents, not the other.

Mendel used algebra to explain this pattern of inheritance. His

algebraic symbols are now known to correspond with the two
alleles of a gene that influences height in pea plants.

The alleles have the symbols T and t.

DOMINANT OR
RECESSIVE ALLELES
• A pure-breeding tall pea plant has two copies of the allele T, so it is homozygous with the genotype TT.

• A pure-breeding dwarf pea plant has two copies of the allele t, so it is homozygous with the genotype tt.

• Parents pass on one allele of the gene to offspring, so all the offspring of a cross between tall and dwarf
plants have the heterozygous genotype Tt.

• When T and t are combined in one individual, it is the allele T that determines the height. We say that the
allele for tallness is dominant.

• The other allele, which does not have an effect if the dominant allele is present, is recessive.

• When the heterozygous F1 plants reproduce, they pass on either T or t to their offspring. 50% of offspring
inherit T and 50% inherit t.

• With self-pollination there are four possible outcomes. These can be shown using a Punnett grid. Because T
is the dominant allele, three of the outcomes result in a tall plant and one in a dwarf.
DOMINANT OR
RECESSIVE ALLELES
In most cases, genes code for polypeptides, and recessive alleles of
genes are produced by mutation from dominant alleles. A
mutation alters the base sequence of a gene and therefore the
amino acid sequence of a polypeptide.

However, if one copy of the original unmutated allele of the gene

is present, the polypeptide coded for by the gene can still be
produced in its fully functional form and there may be no change
to the phenotype.

Monohybrid crosses only involve one character, for example the

height of a pea plant, so they involve only one gene. Most crosses
start with two pure-breeding parents.
 PHENOTYPIC
PLASTICITY
Organisms can respond to their environment by varying their
patterns of gene expression and therefore their traits. This is a
form of adaptation, but it is reversible because genes have only
been switched on or off, not changed into new alleles.

It is known as phenotypic plasticity and is particularly useful if the

environment a population inhabits is heterogeneous rather than
uniform.

For example, a person with pale skin may become darker-skinned

if there is an increase in the intensity of sunlight or more time is
spent with skin exposed to the sunlight. A change in gene
expression results in increased synthesis of the black pigment
melanin in the skin.
Class
activity

Work individually.

Answer the questions in a separate

Docs document and submit it in the
corresponding Google Classroom
space before the deadline.

Remember the [marks] for every

question determines the amount of
answers you need to provide to get
the whole grade.
PHENYLKENONURIA
DISEASE
A genetic disease is an illness that is due to a gene. Most genetic
diseases are caused by a recessive allele of a gene. The disease
therefore only develops in individuals with two copies of the
recessive allele.

A person with one recessive allele and one dominant allele will not
show symptoms of the disease but can pass on the disease-
causing recessive allele to their offspring. These individuals are
called carriers.

Genetic diseases caused by a recessive allele usually appear

unexpectedly. Both parents of a child with the disease must be
carriers, but as they do not show symptoms of the disease they
are usually unaware of this.

The probability of two such parents having a child with the

disease is 1 in 4 or 25%.
PHENYLKENONURIA
DISEASE
Phenylketonuria (PKU) is an example of a disease due to a
recessive allele. The allele is produced by mutation of the gene
coding for the enzyme phenylalanine hydroxylase. This enzyme
converts phenylalanine into tyrosine.

A person with two recessive alleles of the PKU gene cannot

produce any functioning enzyme. Phenylalanine therefore
accumulates in the body and tyrosine deficiency is likely to
develop.

In excess, phenylalanine impairs brain development, leading to

intellectual disability and mental disorders. This can be prevented
by screening for PKU at birth and giving affected children a diet
low in phenylalanine.
 SINGLE NUCLEOTIDE
POLYMORPHISMS
A gene pool is all the genes of all the individuals in a sexually
reproducing population. Every new individual gets a selection of
genes from the gene pool.

Evolution is changes in the gene pool over time. A gene is a length

of DNA, with a base sequence that can be hundreds or thousands
of bases long. The different alleles of a gene have slight variations
in base sequence.

Positions in a gene where different bases can be present are called

single-nucleotide polymorphisms (abbreviated to SNPs and
pronounced snips).

Even within one gene, there can be many different positions with
SNPs. There can therefore be many different alleles of a gene in
the gene pool. This is called multiple alleles.
 SINGLE NUCLEOTIDE
POLYMORPHISMS
S-gene in apples - an examples of multiple alleles

The S-gene prevents self-pollination and reduces inbreeding in

apple trees. There are 32 different S-alleles (e.g., S₁, S₂, S₃), and
each diploid apple tree inherits two alleles. Pollen is rejected if it
shares an S-allele with the receiving tree.

For example, Jazz and Golden Delicious both have S₂S₃ genotypes,
meaning all their pollen is rejected when transferred between
them. However, Gala (S₂S₅) can accept S₅ pollen from Jazz or
Golden Delicious, allowing fertilization. Cox’s Orange Pippin (S₅S₉)
can accept all pollen from Golden Delicious and Jazz, leading to
successful fertilization and a high apple yield.
ABO BLOOD GROUPS AS
MULTIPLE ALLELES
The ABO blood group system in humans is an example of multiple
alleles. It is of great medical importance. Before blood is
transfused, it is vital to find out the blood group of the patient and
ensure that it is matched to the blood to be given to that patient.

Unless this is done, there may be complications due to coagulation

of red blood cells. One gene determines the ABO blood group of a
person. There are therefore six possible genotypes, but only four
phenotypes.
ABO BLOOD GROUPS AS
MULTIPLE ALLELES
This is an example of codominance of alleles and is described
more fully in the next section. The reasons for two blood group
alleles being codominant and the other allele being recessive are
as follows.
 INCOMPLETE DOMINANCE
AND CODOMINANCE
In each of Mendel’s crosses between varieties of pea plant, one of
the alleles was dominant and the other was recessive. However,
some genes have pairs of alleles where neither allele is fully
dominant over the other.

The ABO blood group is an example. Blood group AB is a dual

phenotype and is not intermediate between group A and group B.
This pattern of gene expression is called codominance.
 INCOMPLETE DOMINANCE
AND CODOMINANCE
A different pattern is seen in some other cases, such as flower
colour in Mirabilis jalapa. If a red-flowered plant is crossed with a
white-flowered plant, the offspring have pink flowers. There are
two alleles of the gene for flower colour: CR is the allele for red
flowers and CW is the allele for white flowers.

A plant with the genotype CRCW has pink flowers, which is an

intermediate phenotype. This pattern is known as incomplete
dominance.
SEX DETERMINATION
IN HUMANS
Sex is determined in humans by the 23rd pair of chromosomes.
There are two types of sex chromosome.

• The X chromosome is relatively large and has its centromere

near the middle. It contains about 900 genes, many of which are
essential in both males and females. All humans must therefore
have at least one X chromosome.

• The Y chromosome is much smaller and has its centromere near

one end. It has about 55 genes, many of which are unique to the Y
chromosome and are not needed for female development.
SEX DETERMINATION
IN HUMANS
Because adult females have two X chromosomes, female gametes
typically contain one X chromosome. All offspring inherit an X
chromosome from their mother. Adult males pass on either their
X or their Y chromosome in sperm.

Daughters inherit their father’s X chromosome and sons inherit

his Y chromosome. The sex of the offspring of a human is
therefore determined by the sperm.
SEX DETERMINATION
IN HUMANS
Sex chromosome abnormalities are relatively common in humans.
An individual with two X chromosomes and one Y develops as a
boy with Klinefelter’s syndrome. This demonstrates that it is the
presence of a Y chromosome rather than the absence of a second
X chromosome that causes male development.

An individual with one X and no other sex chromosome develops

as a girl with Turner’s syndrome, showing that it is the absence of
a Y chromosome, not the presence of a second X chromosome
that causes female development.
SEX DETERMINATION
IN HUMANS
Male—One key gene on the Y chromosome called SRY causes the
embryonic gonads to develop into testes. This gene is therefore
known as the testis determining factor (TDF). The developing
testes start to secrete testosterone, the hormone that causes
development of other male organs, so a foetus with one X and
one Y chromosome has a male reproductive system and will
restart secretion of male sex hormone at puberty.

Female—In an embryo without a Y chromosome and therefore no

TDF gene, the fall-back position is that the gonads develop into
ovaries. The embryonic ovaries start to secrete oestradiol, which
causes a female reproductive system to develop. Female sex
hormones will be secreted from puberty onwards.
SEX-LINKED GENETIC
DISORDER
Most sex-linked genetic disorders are caused by recessive alleles
on the X chromosome, as the Y chromosome has very few genes.
Males, having only one X chromosome, develop the disorder if they
inherit a single recessive allele, whereas females are usually
unaffected unless they inherit two recessive alleles.

Haemophilia is a sex-linked disorder where affected individuals

lack or have a defective Factor VIII, a blood clotting protein. This
leads to excessive bleeding from wounds and internal bleeding,
reducing life expectancy to about 10 years if untreated. Treatment
involves infusing purified Factor VIII.

Since the haemophilia allele is rare (1 in 10,000 in boys), it is

extremely uncommon in girls, as both X chromosomes must carry
the mutation.
Class
activity

Work individually.

Answer the questions in a separate

Docs document and submit it in the
corresponding Google Classroom
space before the deadline.

Remember the [marks] for every

question determines the amount of
answers you need to provide to get
the whole grade.
 PEDIGREE CHARTS FOR
PATTERNS OF INHERITANCE
There are over 4,000 known genetic disorders, but most people do
not suffer from them because they are usually caused by rare
recessive alleles. To develop a disorder, an individual must inherit
two copies of the defective allele—one from each parent—making
the likelihood extremely low.

Many societies have historically prohibited inbreeding due to its

observed link to increased genetic disorders.

Since genetic crosses cannot be performed in humans, pedigree

charts are used to trace inheritance patterns. In these charts:

Males are squares, and females are circles

Shaded symbols indicate affected individuals
Lines connect family members, and generations are labeled
with Roman numerals

Pedigree analysis helps scientists and doctors identify inheritance

patterns of genetic diseases.
Class
activity

Work individually.

Answer the questions in a separate

Docs document and submit it in the
corresponding Google Classroom
space before the deadline.

Remember the [marks] for every

question determines the amount of
answers you need to provide to get
the whole grade.
POLYGENIC INHERITANCE AND
ENVIRONMENTAL FACTORS
Variation is one of the defining features of life. Two individual
organisms that are in the same species have fundamental
features in common but are also likely to differ in many traits.

There are two types of variation: continuous and discrete. Skin

colour is an example of a continuous variation and ABO blood
groups are an example of a discrete variation.

The seven traits in peas that Mendel investigated are all

influenced by single genes with no environmental effects, so every
individual can be unambiguously assigned to a discrete class.
POLYGENIC INHERITANCE AND
ENVIRONMENTAL FACTORS
Skin color in humans shows continuous variation and is influenced
by both genetics and the environment. Sunlight exposure
stimulates the production of melanin, a pigment that protects
against UV damage. Pale skin darkens with sun exposure, while
people with naturally dark skin produce more melanin without
sunlight as a trigger.

This variation is due to multiple genes, making it an example of

polygenic inheritance.

Evolutionary Adaptation:
Early human ancestors in Africa had dark skin to protect
against intense UV rays.
As humans migrated north, lighter skin evolved to allow UV
penetration for vitamin D production, since sunlight was
weaker.
This adaptation helped populations avoid vitamin D deficiency
in regions with lower sunlight levels.
 BOX-AND-WHISKER
PLOTS
A box-and-whisker plot visually represents seven key data points:
1. Minimum value (excluding outliers)
2. Lower quartile (Q1)
3. Median (Q2)
4. Upper quartile (Q3)
5. Maximum value (excluding outliers)
6. Interquartile range (IQR)
7. Outliers

This plot helps assess data variability and skewness. When multiple
box plots are displayed, the box size can represent sample size.

To identify outliers, first calculate the IQR (Q3 - Q1). Multiply by 1.5:
Upper outlier cutoff = Q3 + (1.5 × IQR)
Lower outlier cutoff = Q1 - (1.5 × IQR)
This method ensures a consistent standard for detecting outliers in
datasets.
Class
activity

Work individually.

Answer the questions in a separate

Docs document and submit it in the
corresponding Google Classroom
space before the deadline.

Remember the [marks] for every

question determines the amount of
answers you need to provide to get
the whole grade.
SEGREGATION AND
INDEPENDENT ASSORTMENT
Segregation is the separation of alleles during gamete formation
so that each gamete inherits only one allele of a gene. In diploid
cells, there are two alleles per gene, but during meiosis, these
alleles separate into different gametes, ensuring that each haploid
gamete carries only one allele.

Independent assortment refers to the random segregation of

alleles from different genes, meaning the inheritance of one gene
does not affect the inheritance of another. This results in random
combinations of alleles in gametes, increasing genetic variation in
offspring.
SEGREGATION AND
INDEPENDENT ASSORTMENT
Segregation and independent assortment are the consequence of
events in meiosis. The alleles of a gene come together within the
nucleus when homologous chromosomes pair up during Prophase I
of meiosis.

They usually then separate during Anaphase I when the

homologous chromosomes move to opposite poles. Sometimes, this
separation is delayed until Anaphase II because of the effects of
crossing over.
SEGREGATION AND
INDEPENDENT ASSORTMENT
During Metaphase I of meiosis, the orientation of homologous
chromosome pairs is random, meaning each allele has a 50%
chance of moving to either pole of the cell.

Since the orientation of one chromosome pair does not affect

another, genes on different chromosomes (or far apart on the
same chromosome) assort independently, leading to genetic
variation.

However, some genes do not assort independently if they are

close together on the same chromosome—this is called gene
linkage. Linked genes tend to be inherited together unless crossing
over separates them. Therefore, independent assortment applies
only to unlinked genes.
 DIHYBRID
CROSSES
Monohybrid crosses test the inheritance of a single gene, whereas
dihybrid crosses investigate the joint inheritance of two genes.
Mendel performed some dihybrid crosses.

For example, he crossed pure-breeding round yellow peas with

pure-breeding wrinkled green peas. All the F1 hybrids had round
yellow seeds. This is not surprising, as these characters are due to
dominant alleles.

Constructing a Punnett grid

LOCI OF HUMAN
GENES
There are about 20,000 genes in the human genome that code for
the amino acid sequence of a polypeptide. Each of these genes has
a characteristic base sequence, varying somewhat between
alleles, and also a locus.

The locus of a gene is its specific position on one of 22 types of

autosome (numbered 1 to 22) or one of the two types of sex
chromosome (X and Y).
 DIHYBRID
CROSSES
Gene linkage occurs when genes are located close together on the
same chromosome, preventing independent assortment. While
genes can be linked on the X chromosome, most linked genes are
found on autosomes (non-sex chromosomes). Linkage is detected
when the F₂ ratio in a dihybrid cross differs significantly from the
expected 9:3:3:1 ratio seen in unlinked genes.

The first discovered case of autosomal gene linkage was in

Lathyrus odoratus (sweet pea). When crossing purple-flowered,
long-pollen plants with red-flowered, round-pollen plants, the F₁
generation had only purple, long-pollen offspring. In the F₂
generation, more parental-type plants appeared than expected
because their genes were physically linked on the same
chromosome.

However, crossing over during Prophase I of meiosis can create

recombinant phenotypes (e.g., purple round and red long plants) by
shuffling alleles, breaking the gene linkage in some gametes. This
explains why some new trait combinations appear in the F₂
generation, even though linkage tends to keep parental traits
together.
LINKED OR UNLINKED
GENES
A recombinant is an individual with a different combination of
alleles and therefore traits from either parent. Recombinants are
the result of the process of genetic recombination, which happens
during meiosis.

Random orientation of bivalents results in production of new

combinations of unlinked genes by independent assortment.
Crossing over produces new combinations of linked genes.

The frequency of recombination between two genes can be

measured by crossing individuals that are heterozygous for both
genes to individuals that are homozygous recessive for both genes.
LINKED OR UNLINKED
GENES
Example 1: Seed shape and colour in peas

• The alleles for round seed (R) and yellow seed (Y) are dominant
over the alleles for wrinkled seed (r) and green seed (y).

• Pure-breeding round yellow plants (RRYY) were crossed with

pure-breeding wrinkled green plants (rryy).

• The heterozygous RrYy plants were backcrossed to the wrinkled

green parental strain (rryy).

• In the F2, there were 55 round yellow, 51 round green, 49

wrinkled yellow and 52 wrinkled green. This approximates to a
1:1:1:1 ratio and indicates that the two genes are unlinked.
 USE OF CHI-SQUARED
ON DIHYBRID CROSSES
The chi-squared test is a commonly used statistical hypothesis test.
One of its uses is to test “goodness of fit”, which is how well
predictions from a biological or statistical model fit the observed
values. In genetics, chi-squared testing can assess if observed ratios
correspond with predicted Mendelian ratios such as 3:1, 1:1, 9:3:3:1
and 1:1:1:1.

There are two possible hypotheses.

• H0 : the traits fit the predicted ratio. This is the null hypothesis.

• H1: the traits do not fit the predicted ratio. This is the alternative
hypothesis.