A Level Biology

Inheritance

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▪ The mechanism of transmitting characters from parents to their progeny is called
inheritance.
▪ The study of the mechanism of inheritance is known as genetics.
▪ A gene is a length of DNA that codes for the production of a polypeptide molecule.
The code is held in the sequence of nucleotide bases in the DNA. A triplet of three
bases codes for one amino acid in the polypeptide that will be constructed on the
ribosomes in the cell. One chromosome contains enough DNA to code for many
polypeptides.
▪ Different varieties of the same gene are called alleles.
Genotype
▪ Most genes, including the 𝛃-globin polypeptide gene, have several different alleles.
For simplicity, the different alleles of a gene can be represented by symbols.
▪ HbA = the allele for the normal 𝛃-globin polypeptide
▪ HbS = the allele for the sickle cell 𝛃-globin polypeptide
▪ The letters Hb stand for the locus of the haemoglobin gene, whereas the superscripts
A
and S stand for particular alleles of the gene.
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▪ In a human cell, which is diploid, there are two copies of the 𝛃-globin polypeptide gene. The two
copies might be:
 HbAHbA or HbSHbS or HbAHbS
▪ The alleles that an organism has form its genotype. In this case, where we are considering just
two different alleles, there are three possible genotypes.
▪ A genotype in which the two alleles of a gene are the same - for example, Hb AHbA is said to be
homozygous for that particular gene. A genotype in which the two alleles of a gene are different -
for example, HbAHbS - is said to be heterozygous for that gene.
▪ The organism can be described as homozygous or heterozygous for that characteristic.

▪ The observable characteristics of an

individual are called the person’s phenotype. Genotype Phenotype
We will normally use the word ‘phenotype’ to
HbAHbA Normal
describe just the one or two particular
characteristics that we are interested in. In HbAHbS Normal, but with sickle cell trait
this case, we are considering the HbSHbS Sickle cell anaemia
characteristic of having, or not having, sickle
cell anaemia.
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▪ A person with the genotype HbAHbS has some normal
haemoglobin and some sickle cell haemoglobin. A
snapdragon with the genotype CRCW has some red
colour and some white colour, so that the flowers
appear pink. Alleles that behave like this are said to be
codominant.
▪ Frequently, however, only one allele has an effect in a
heterozygous organism. This allele is said to be the
dominant allele, whereas the one that has no effect is
recessive. An example is stem colour in tomatoes.
▪ There are two alleles for stem colour, one of which
produces green stems, and the other purple stems. In
a tomato plant that has one allele for purple stems and
one allele for green stems, the stems are exactly the
same shade of purple as in a plant that has two alleles
for purple stems. The allele for purple stems is
dominant, and the allele for green stems is recessive.

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Gregor Mendel
▪ Gregor Mendel, also known as the founder of
modern science of genetics, conducted
experiments on garden pea plants between 1856-
1863.
▪ His papers were published in 1866 which laid the
foundation for the present studies. However, these
were ignored for 34 years.
▪ In 1900, De Veris, Tschermack and Correns
rediscovered Mendel’s findings individually.
▪ After this, Mendel’s work was highly accepted.

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Mendel's first experiment
▪ True breeding tall and dwarf plants were selected for this experiment.
▪ He avoided self pollination of tall plants by removing their stamens.
▪ Then he took pollens from the dwarf plant and applied on the stigma of tall plants to
pollinate them.
▪ Later, the seeds collected from the tall plants were subjected to germination.
▪ All seeds gave rise to tall plants.
▪ Then he let all tall plants self pollinate and obtained their seeds.
▪ These grew as the second set of offspring.
▪ The first set of plants used for crossing were named as parents and symbolised as
P1.
▪ The first set of offspring were named as the first filial with a symbol of F 1.
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▪ The second set of parents were symbolised as P 2 and their offspring as F2.
▪ Mendel’s first experiment can be illustrated as follows using a genetic diagram.

Feature ----> Tall Dwarf

tall x dwarf ----------- P1

Tall ←------------------- F1

F1 was selfed tall x tall ←------------ P2

tall dwarf ←--------- F2

3 : 1
▪ He noticed that only one character has been expressed by the F 1 generation and
named it as the dominant character. This was denoted by a capital letter.
▪ Tall - T
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▪ The character that did not express itself was named as the recessive character and
denoted by a simple letter.
▪ Dwarf - t
▪ Mendel made the following assumptions from his first experiment.
□ Characters are controlled by factors.
□ These factors are present in parents as pairs.
□ Therefore the parents of F1 generation can be denoted as follows.
□ Tall trees : TT
□ Dwarf trees : tt
▪ These two factors segregate into gametes individually. Therefore the tall plant forms
T gametes and the dwarf plants form t gametes.
▪ These were combined to form the F1 generation.
▪ During self pollination, F1 plants produce two types of gametes - T t

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▪ Then these were randomly combined to form the F2 generation.
▪ The first experiment can be illustrated by a genetic diagram as follows.

Tall - T Dwarf - t

Tall x dwarf ----------- P1

TT tt

---------------- G1

Tt ------------------------------ F1
Tall

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F1 was selfed.

Tall x Tall ----------P2

Tt Tt

-------- G2

TT Tt Tt tt ----------- F2

Tall Tall Tall Dwarf

3 : 1

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▪ Mendel obtained tall and dwarf plants in F2 generation.
▪ The ratio between the plants were tall : dwarf
3:1

▪ Mendel presented his first law from this experiment.

1. Factors that determine hereditary characters of organisms exist in pairs.
2. During gamete formation, segregation occurs, therefore each gamete consists
only of one factor from a pair.
▪ Since only one character of pea plant was considered in this experiment, it was a
monohybrid cross.

Pisum sativum - garden pea plant

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Mendel’s second experiment
▪ Two pairs of contrasting characters were selected.
a) Homozygous tall plants with round seeds
b) Homozygous tall plants with wrinkled seeds

▪ These parents were crossed to obtain F1 generation.

▪ F1 gave rise to all with tall plants and round seeds.
▪ Therefore the above two were the dominant characters. Hence these can be denoted
as follows:
 Size = Tall - T, dwarf – t
 Shape of seeds = Round - W, wrinkled - w

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▪ As parents are homozygous, their genotypes can be written as follows.
▪ Tall/round seeds = TTWW
▪ Dwarf/ wrinkled seeds = ttww
▪ Here, Mendel states that during gamete formation, any one factor of a pair can
combine with any other factor of another pair. Therefore following gametes are
formed.
▪ and
TW tw

▪ F1 was obtained by combining the above two gametes and they gave rise to all with
tall plants and round seeds (TtWw).
▪ F1 parents were selfed to obtain F2 generation.

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 Homozygous Homozygous
tall/round x dwarf/wrinkled ----------> P1

TTWW ttww

TW tw

TtWw -------------> F1
tall / round seed

F1 was selfed

tall/ round x tall/ round -----------> P2

TtWw TtWw

TW Tw tW tw TW Tw tW tw
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 TW Tw tW tw

TTWW TTWw TtWW TtWw

TW tall/round tall/round tall/round tall/round

TTWw TTww TtWw Ttww F2

Tw tall/round tall/wrinkled tall/round tall/wrinkled

TtWW TtWw ttWW ttWw

tW tall/round tall/round dwarf/round dwarf/round

TtWw Ttww ttWw ttww

tw tall/round tall/wrinkled dwarf/round dwarf/wrinkled

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▪ Four types of phenotypes were obtained with a
ratio of 9: 3: 3: 1 in F2 generation.

Mendel’s second law

▪ During gamete formation, nay one factor of a
pair can combine with any factor of another
pair.
▪ This law is known as independent segregation.
▪ In the second experiment, Mendel considered
two features of the pea plant, and therefore it is
a dihybrid cross.

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Non allelic gene interactions
▪ The function of one gene may be affected by another gene.
▪ Therefore the character is determined by the nature of alleles in both genes together.
▪ This takes place in different ways.
1. Epistasis - dominant epistasis / recessive epistasis
2. Multiple alleles
3. Polygenic inheritance - several genes determining the same character. E.g.
height of man

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Epistasis
▪ A gene interaction which takes place within two
pairs of non allelic genes present at different
gene loci.
▪ The gene which suppresses or masks the
effect of another gene is known as an epistatic
gene.
▪ The gene which fails to produce its effect is
known as hypostatic gene.

In mice, the mottled agouti coat color (A) is dominant

to a solid coloration, such as black or gray. A gene at a
separate locus (C) is responsible for pigment
production. The recessive c allele does not produce
pigment, and a mouse with the homozygous recessive
cc genotype is albino regardless of the allele present
at the A locus. Thus, the C gene is epistatic to the A
gene.
Source: Openstax/Genetics and Evolution alevelbiology.co.uk
Multiple alleles
▪ Some genes have more than two alleles.
▪ Different alleles express different
phenotypes. These alleles may be:
a) Completely dominant over the other
or
b) May show codominance
▪ Hence if a character is controlled by many
alleles of a gene, its is known as multi
allele inheritance. E.g. human blood group

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▪ There are three alleles for human blood type.
1. Allele for blood group O = Io (recessive)

2. Allele for blood group A = IA

codominant
3. Allele for blood group B = IB

▪ Following genetic diagram shows a cross between a heterozygous individual with

blood group B and a heterozygous individual with a blood group A.

▪ Genotype of the parents ----------> IAIO I BI O

▪ Alleles of gametes -------------->
IA IO IB IO

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 IA IO

IAIB IBIO
IB Group AB Group B

I AI O IOIO
IO
Group A Group O

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Sex inheritance
▪ In humans, sex is determined by one of the 23 pairs of chromosomes. These
chromosomes are called the sex chromosomes. The other 22 pairs are called
autosomes.
▪ The sex chromosomes differ from the autosomes in that the two sex chromosomes in
a cell are not always alike. They do not always have the same genes in the same
position, and so they are not always homologous. This is because there are two
types of sex chromosome, known as the X and Y chromosomes because of their
shapes.
▪ The Y chromosome is much shorter than the X, and carries fewer genes. A person
with two X chromosomes is female, whereas a person with one X and one Y
chromosome is male.

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Sex linkage
▪ The X chromosome contains many different genes. One of them is a gene that codes
for the production of a protein needed for blood clotting, called factor VIII. There are
two alleles of this gene, the dominant one, H, producing normal factor VIII, and the
recessie one, h, resulting in a lack of factor VIII. The recessive allele causes the
disease haemophilia, in which the blood fails to clot properly.
▪ The fact that the gene for haemophilia is on the X chromosome, and not on an
autosome, affects the way that it is inherited. Females, who have two X
chromosomes, have two copies of the gene. Males have only one X chromosome,
and so have only one copy of the gene.

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▪ Therefore, the possible genotypes for men and women are different. The factor VIII is
said to be sex linked. A sex linked gene is one that is found on a part of the X
chromosome not matched by the Y, and therefore not found on the Y chromosome.
▪ Genotypes including sex linked genes are always represented by symbols that show
that they are on an X chromosome. Thus the genotype of a woman who has the
allele H on one of her X chromosomes, and the allele h on the other, is written as
XHXh.
▪ Let us look at an example about the probability of affected children that could be born
to a couple where the man does not have haemophilia, while the woman is a carrier
for the disease.

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Each time this couple has a child, there
is a
▪ 0.25 probability that it will be a
normal girl.
▪ 0.25 probability that it will be a
normal boy.
▪ 0.25 probability that it will be a
carrier girl.
▪ 0.25 probability that it will be a boy
with haemophilia.

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Linkage
▪ Lots of inherited characters are possessed by organisms. But they have got limited
number of chromosomes.
▪ Therefore each pair of chromosomes must consist of many genes which are
responsible in controlling characters.
▪ Genes that are situated on the same chromosomes are said to be linked genes and
characters are known as linked characters.
▪ All characters in a pair of homologous chromosomes form a linkage group.
▪ These genes pass into a gamete as a unit.
▪ Hence the characters are also passed as a unit from one generation to the other.

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Let us look at an example:
▪ A fruit fly known as drosophila’s long wings (L) is dominant over vestigial wings (l).
Grey body (G) is dominant over black body (g).
▪ Pure breeding grey bodied long winged drosophila is crossed with black bodied
vestigial winged drosophila resulting a F1 progeny all with long wings and grey
bodied flies.
▪ F2 progeny was produced as follows.
▪ Long winged grey bodied - 3
▪ Vestigial winged black bodied - 1
▪ Explain the results fully.
▪ Characters are controlled by the following alleles.
□ Long wing = L Vestigial wings = l
□ Grey body = G Black body = g

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▪ Parents are true breeding. Therefore they are homozygous for their characters.
a) long/ grey = LLGG
b) vestigial/ black = llgg

▪ Following are the gametes formed by the above parents.

a) b)
LG lg

▪ Therefore the genotype and the phenotype of F 1 generation is LlGg.

▪ F1 flies with long wings and grey body are heterozygous for both characters.
▪ If these characters behave according to Mendel’s 2 nd law, F2 generation would
produce four phenotypes with a phenotypic ratio of 9: 3: 3: 1.
▪ But F2 generation has produced only 2 phenotypes with a ratio of 3: 1.

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▪ These two characters have been moved as a unit from generation to generation
instead of segregating independently. Therefore both genes are found on the same
homologous chromosomes and they behave as linked characters. Hence this can be
tabulated as follows.

Long/ grey x vestigial/ black ----------> P1

L L l l
GG gg

L l
G g

Ll
----------> F1
Gg

100% long/ grey body

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F1 is selfed:

long/ grey x long/ grey ---------> P2

Ll Ll
Gg Gg
L l L l ----------> G1
G g G g

LL Ll Ll ll
GG Gg Gg gg

long/grey long/grey long/grey vestigial/black

3 : 1

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The 𝛘2 (chi-squared) test
▪ The chi-squared (𝛘2) test is a statistical test which allows us to compare our
observed results with the expected results, and decide whether or not there is a
significant difference between them.
▪ The first stage in carrying out this test is to work out the expected results. These, and
the observed results, are then recorded in a table. We then calculate the difference
between each set of results, and square each difference. (Squaring gets rid of any
minus signs - it is irrelevant whether the differences are negative or positive.) Then
we divide each squared difference by the expected value, and add up all of the
answers.

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▪ So now we have our value of 𝛘2.
▪ Next we have to work out what it means.
▪ To do this, we look in a table that
relates 𝛘2 values to probabilities.

Probability greater than

Degrees of
freedom 0.1 0.05 0.01 0.001

1 2.71 3.84 6.64 10.83

2 4.6 5.99 9.21 13.82

3 6.25 7.82 11.34 16.27

Table1
4 7.78 9.49 13.28 18.46
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▪ The probabilities given in the table1 are the probabilities that the differences between
our expected and observed results are due to chance.
▪ For example, a probability of 0.05 means that we would expect these differences to
occur in every five out of every 100 experiments, or one in 20, just by chance. A
probability of 0.01 means that we would expect these differences to occur in one out
of every 100 experiments, just by chance.
▪ In biological experiments, we usually take a probability of 0.05 as being critical one.
If our 𝛘2 value represents a probability of 0.05 or larger, then we can be fairly certain
that the differences between our observed and expected results are due to chance-
the differences between them are not significant.
▪ However, if the probability is smaller than 0.05, then it is likely that the difference is
significant, and we must reconsider our assumptions about what was going on in this
cross.
▪ There is one more aspect of our results to consider before we can look up our value
of 𝛘2 in the table1. This is the number of degrees of freedom in our results.

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▪ The degrees of freedom take into account the number
of comparisons made. (remember that to get our
value for 𝛘2, we added up all our calculated values,
so obviously the larger the number of observed and
expected values we have, the larger 𝛘2 is likely to be.
We need to compensate this.)
▪ To work out the number of degrees of freedom, simply
calculate the number of classes of data minus 1.
▪ Now at last we can look at the table1 to determine
whether our results show a significant deviation from
what we expected.

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