Inheritance

Inheritance is the transmission of genetic information from one generation to the

next, leading to continuity of the species and variation within it.

Key definitions

Chromosome A thread of DNA, made up of genes.

Allele An alternative form of a gene. Pairs of alleles occupy the same relative positions on
chromosome pairs.
Gene A section of DNA, which codes for the formation of a protein controlling a specific
characteristic of the organism.
Haploid nucleus A nucleus containing a single set of unpaired chromosomes, e.g. in sperm and ova
(eggs). In humans, the haploid number is 23.

Diploid nucleus A nucleus containing pairs of chromosomes, e.g. in somatic (body) cells, in humans the
diploid number is 46.
Genotype The genetic make-up of an organism, e.g. Tt, where T and t are alleles of a gene.

Phenotype The characteristics visible in an organism, controlled by the genotype, e.g. a tall plant
or a dwarf plant.
Homozygous Having a pair of identical alleles controlling the same characteristics, e.g. TT, where
T=tall. The organism will be pure-breeding for that characteristics.

Heterozygous Having a pair of dissimilar alleles for a characteristic, e.g. Tt.

Dominant A gene, e.g. T, that always shows in the phenotype of an organism whether the
organism is heterozygous (Tt) or homozygous (TT).

Recessive A gene, e.g. t, that only has an effect on the phenotype when the organism is
homozygous (tt)

Chromosomes, DNA, genes and alleles

In the nucleus of every cell there are a number of long threads called
chromosomes.

Chromosomes

Most of the time, the chromosomes are too thin to be seen except with an electron
microscope. But when a cell is dividing, they get shorter and fatter so they can be
seen with a light microscope.

Human chromosomes and nucleus. Chromosomes are a

packaged form of DNA. The DNA normally exists in a non-
condensed form in the cell nucleus (upper right). It
condenses into chromosomes (centre and lower left)
during cell replication.
Human cells contain 46 chromosomes, which are in pairs. Sex cells (sperm and ova)
contain only 23 chromosomes. The 23 chromosomes comprise one from each pair.

Inheritance of sex in humans

Of the 23 pairs of chromosomes present is each human cell, one pair is the sex
chromosomes. These determine the sex of the individual. Male have XY, female
have XX. So the presence of a Y chromosome results in male features developing.

DNA

Each chromosome contains one very long molecule of DNA. The DNA molecule
carries a code that instructs the cell about which kind
of proteins it should make. Each chromosome
carries instructions for making many different proteins.

Gene

Each chromosome is made up of a large number of genes

coding for the formation of different proteins which give
us our characteristics. The gene responsible for a
particular characteristic is always on the same relative
position on the chromosome.
 A part of a DNA molecule coding for one protein is called a gene.

Alleles

When the chromosomes are in pairs, there may be a different form (allele) of the
gene on each chromosome.

Cell division – Mitosis and Meiosis

Mitosis is a nuclear division giving rise to genetically

identical cells in which the chromosome number is
maintained by the exact duplication of
chromosome.

Meiosis is a reduction division in which the

chromosome number is halved from diploid to
haploid.

Mitosis

Mitosis is the way in which any cell (plant or animal) divides when an organism is:

• growing
• repairing a damaged part of its body
• replacing worn out cells
Growth means getting bigger. An individual cell can grow a certain amount, but not
indefinitely. Once a cell gets to a certain size, it becomes difficult for all parts of the
cell to obtain oxygen and nutrients by division. In order to grow any more, the cell
divides to form two smaller cells, each of which can then grow and divide again.

Mitosis is also used in asexual reproduction. For example, sweet potato plant can
reproduce by growing adventitious roots or runners which eventually produce new
plants.

Process of mitosis

• During the process, all the chromosomes in the parent cell are
copied.
• Each copy remains attached to the original one --> each
chromosome is made up of 2 identical threads joined together.
• The parent cell (with 4 chromosomes) split to form 2 nuclei each
with 2 chromosomes as the parent nucleus cell.
• At the end of a mitotic cell division, the number of cells is doubled
and the daughter cells produced are genetically identical to the parent.

Meiosis

Meiosis is the way in which gametes (sex cells) are produced. Gametes have only
half the number of chromosome of a normal body cell. They have 1 set of
chromosome instead of 2. When they fuse together, the zygote formed has 2 sets.

• Human gametes are formed by the division of cells in the ovaries and
testes
• The gametes produced are haploid, but they are formed from diploid cells,
so meiosis involves halving the normal chromosome number - the pairs of
chromosomes are separated.
• During meiosis, the new cells get a mixture of homologous chromosomes
from father and mother --> A sperm cell could contain a chromosome 1
from father and a chromosome 2 from mother.
• There are all sorts of combinations --> gametes are genetically different
form the parent cells. Meiosis produces genetic variation.
 • When ova are formed in a woman, all the ova will carry an X chromosome.
When sperm are formed in a man, half the sperm will carry an X
chromosome, half will carry a Y chromosome.

A monohybrid cross involves the crossing of individuals and the

examination of one (mono) character (flower colour, pod shape...) and
different (hybrid) traits (red colour, white colour) in their offspring.

The Punnett square is a useful tool for predicting the genotypes and
phenotypes of offspring in a genetic cross involving Mendelian traits.

Mendel crossed true-breeding plants that differed for a given character.

Pollen from true-breeding pea plants with purple flowers (one trait) was
placed on stigmas of true-breeding plants with white flowers (another
trait).

The F1 seeds were all purple; the white flower trait failed to appear at all. Because
the purple flower trait completely masks the white flower trait when true-breeding
plants are crossed, the purple flower trait is called dominant, and the white flower
trait is called recessive.

The F1 plants were allowed to self-pollinate. This step was the monohybrid
cross. (or the F1 cross). The progeny, called F2, were examined: roughly 1/4
were white, and 3/4 were purple.
All the genetic crosses shown below will involve examples using pea plants, which
can be tall (T) of dwarf (t) – tall is dominant to dwarf.

Codominance and inheritance of blood group

Sometimes, neither of a pair of alleles is completely dominant or completely

recessive. Instead of one of them completely hiding the effect of the other in a
heterozygote, they both have an effect on the phenotype. This is called
codominance.

The result is that there can be three different phenotypes. When writing the
genotypes of codominant alleles, the common convention is to use a capital
letter to represent the gene involved, and a small raised letter for each
phenotype.

Imagine a kind of flower which has two alleles for flower colour. The allele Cw
produces white flowers, while the allele CR produces red ones. If these alleles show
codominance, then the genotypes and phenotypes are:

genotype phenotype
w w
C C white flowers
C w CR pink flowers
C R CR red flowers

Common misconceptions

When factors are codominant, students often think this will result in different
proportions of offspring having the parents’ features. However, codominance results
in the appearance of a new characteristic, which is intermediate to the parent’s
features. For example, if the parents are pure-breeding for long fur and short fur, the
offspring will all have medium-length fur.

Inheritance of A, B, AB and O blood group - an example of codominance

• In humans, there are 4 blood types (phenotypes): A, B, AB, and O

• Blood type is controlled by 3 alleles: IA, IB, IO (the base letter = I
stand for immunoglobulin)
• IO is recessive, two IO alleles must be present for the person to
have type O blood
• IA and IB are codominant but both are dominant to Io. If a person
receives an IA allele and a IB allele, their blood type is type AB, in which
characteristics of both A and B antigens are expressed.

Because IO is dominated by both IA and IB alleles, a person with blood group A could
have the genotype IA IO or IA IA. This has implication when having children because, if
both parents carry the IO allele, a child could be born with the genotype IOIO (blood
group O), even though neither of the parents have this phonotype.
 Mutation, Down syndrome, effect of radiation

Mutation is a unpredictable change in the genes or chromosome number, as a

result of fault copying when DNA is replicated, faulty separation of chromosomes
during cell division, or exposure to radiation or some chemicals.

Down’s syndrome is caused by a mutation. When ova are formed in the ovaries, the
chromosome number is halving. During this division process (meiosis), one of the
chromosome (number 23) sticks to its partner. This results in one ovum with 24
chromosomes and one with only 22, and the ovum with 24 chromosomes is still
viable. If it is fertilized, the fetus formed will have 47 chromosomes instead of 46.
 3 chromosomes 21 in Down syndrome.

The presence of the extra chromosome causes unusual characteristics in the baby.
These usually include lowered life expectancy, mental retardation (although some
Down’s children are very intelligent), early puberty, and a distinctive round face and
short neck.

Ạ child with Down syndrome.

Effects of ionising radiation and chemicals on the rate of mutation

• Mutation are normally very rare. However, exposure to radiation

and some chemicals, such as tar in tobacco smoke, increases the rate of
mutation.
• Exposure can cause uncontrolled cell division, leading to the
formation of tumours (cancer).
 The development of cancer from mutated cells.

• Exposure of gonads (testes and ovaries) to radiation can lead to

sterility or to damage to genes in sex cells that can be passed on to
children.
• Some scientists argue that there is a higher incidence of leukaemia
(a form a white blood cells cancer) in the children of workers at nuclear
power stations.

Sickle cell anaemia and its incidence to that of malaria

Sickle cell anaemia is caused by a mutation in the blood pigment

haemoglobin. When the faulty haemoglobin is present in a red blood cell,
it causes the cell to deform and become sickle shaped, especially when
oxygen levels in the blood become low.

Normal and sickle red blood

cells

In this state the sickled red blood cells are less

efficient at transporting oxygen and
more likely to become stuck in a capillary,
preventing blood flow.

The faulty allele is dominated by the allele for normal haemoglobin, but still has
some effect in a heterozygous genotype.

The possible genotypes are:

 • HNHN normal haemoglobin, no anaemia
• HNHn some abnormal haemoglobin, sickle cells trait (not life threatening)
• HnHn abnormal haemoglobin, sickle cells anaemia (life-threatening)

Malaria is a life-threatening disease caused by a parasite that invades red blood

cells. The parasite is carried by some species of mosquito.

• A person who is heterozygous (HNHn) for sickle cell anaemia has

protection from malaria, because the malaria parasite is unable to invade
and reproduce in the sickle cells.
• A person who is homozygous for sickle cell anaemia (HnHn) also has
protection, but is at high risk of dying form sickle cell anaemia.
• A person with normal haemoglobin (HNHN) in a malarial country is at high
risk of contracting malaria.

When the distributions of malaria and sickle cell anaemia are shown on a map of the work, it is found that the
two coincide in tropical areas because of the selective advantage of the Hn allele in providing protection
against malaria.