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The basics of genetics

mutations mistakes in transcription / translation
Inheritance
phenotype physical/chemical characteristics that make up the appearance of an organism
result of the genotype (genetic information) passed from parents to their offspring + environment
differences in the genotype between different organisms of a species are due in part to the
changing of genes that occurs during the process of meiosis, and in part of the inheritance of genes
from two different individuals in sexual reproduction
the cells of any individual organism contains a certain number of chromosomes that is
characteristic of the species
half of the chromosomes are inherited from each parent
the sets of chromosomes can be arranged as matching homologous pairs (chromosomes that pair
up during meiosis- can contain different alleles different genetic information on these genes) in a
karyotype (mapping of the chromosomes e.g. humans 2n = 46)
a gene found for a particular characteristic is always found in the same position called a locus
different versions of a chain are called alleles that produce variations of the characteristic
if both alleles coding for a particular characteristic are identical then the organism is homozygous
for that characteristic i.e. it is a homozygote if two alleles coding for a characteristic are different the organism is heterozygous for that
characteristic and is called a heterozygote
some alleles are described as dominant their effect is expressed whether the individual is
homozygous or not
As long as one of them is present, it will be expressed in the phenotype even in the presence of
another recessive allele.
Recessive alleles are only expressed in the phenotype when there are two of them, when the
organism is homozygous recessive.

Monohybrid crosses
homozygotes are referred to as true breeding because if you cross two individual that are
homozygous for the same characteristic all the offspring of the following generations will show this
same characteristic in their phenotype unless a mutation occurs.
heterozygotes are not true breeding as when they are crossed the offspring will include
homozygous dominant, recessive and heterozygous types and at least two different phenotypes.
When one gene is considered at a time in a genetic cross it is referred to as a monohybrid cross.
the first generation of a cross is called the first filial generation (F1)

Adam Clarke www.brain-freeze.co.uk

Genetics experiments
Much of our understanding of human genetics comes from experiments on other organisms. A
suitable organism for a genetic experiment should:
be easy and cheap to raise maximise successful breeding and minimise the cost of the experiment
for valid results genetics investigations need lots of organisms.
have a short life cycle so that the results of crosses and or mutations can be seen quickly
produce large numbers of offspring so that the results of any crosses are statistically relevant.
have clear easily distinguished characteristics
Using plants for genetic experiments tends to decrease chance of ethical issues
Understanding human genetic traits
Some human traits are inherited through a single gene others are polygenic controlled by several
interacting genes.
This is different from having several possible alleles for the same gene e.g. it is known that eye
colour is controlled by at least three genes but how they interact is to be discovered.
Enzyme chains in cells also show polygenic inheritance. It takes many enzymes to release energy in
the mitochondria to make a particular protein in a cell. A large number of genes are involved at least
one for each enzyme in the chain. If mutation of any of these genes result in a missing enzyme the
process will not work.

Thalassaemia
Not a single disorder range of them that affect polypeptide chains of the haemoglobin molecule
which carries oxygen in the blood.
Haemoglobin is a huge molecule made up of 574 amino acids arranged in four polypeptide chains
held together by sulfur bridges. There are two types of polypeptide chain in haemoglobin the alpha
and beta chains.
Each chain is arranged around an iron-containing haem group.
Haemoglobin shows polygenic inheritance, with a different gene coding for each of the two different
chains. Depending on the type of disease Thalassaemia prevents the formation of either alpha/beta
haemoglobin chains.
This causes the haemoglobin to not carry sufficient oxygen.
Symptoms typical of anaemia fatigue / lack of energy insufficient oxygen in blood
Alpha Thalassaemia polygenic inheritance inherited from genes on two loci on chromosome 16
The most common cause of this is the deletion of one+ of these genes the more deleted the less
alpha haemoglobin is made and the worse the symptoms are.
If all four genes are deleted the condition is very serious and may be fatal.
This is the most common blood disorder in the world linked to people who have milder forms of
alpha Thalassaemia have low levels of anaemia but increased resistance to malaria.

Adam Clarke www.brain-freeze.co.uk

Beta Thalassaemia caused by mutations in the HBB gene on chromosome 11 this gene is not
usually deleted but about 100 different mutations are known. Many mutations cause reduction in
beta haemoglobin chains mild symptoms of anaemia. Most severe form is Thalassaemia major
(Cooleys anaemia). This mutation means that the beta chains of the haemoglobin molecule cant be
made at all.
The mutation that causes beta Thalassaemia forms a recessive allele. This means that affected
children are usually born to carrier parents who both have the beta Thalassaemia allele. These
carriers will appear normal / suffer mild form some mutations in allele show degree of incomplete
dominance neither allele is completely dominant or recessive so both affect the phenotype
(physical traits)
There is no cure for Thalassaemia it can be treated by blood transfusions but the body builds up
an excess of iron so drugs are needed to deal with this problem too. Treatment is expensive and has
to be carried out frequently through life. Screening can reduce number of those born affected.
Genetic pedigree diagrams
A pedigree diagram includes all members of a family indicating their sex and whether or not they
have the disease.
In families affected by conditions such as Thalassaemia genetic pedigree diagrams can be useful in
predicting which family members may be carriers of the genetic mutation, allowing them to consider
their options before they conceive a child.

The albino trait

Albinism is a condition in many species in which the natural melanin pigment of the skin, eyes and
hair does not form. There are several different forms of albinism, and mutations in several different
genes can give similar results in the phenotype.
One of the most common forms is due to a mutant allele which prevents the formation of a normal
enzyme in the cells. The enzyme tyrosinase (normally active in the melanocytes pigment forming
cells) is not formed correctly and so the reactions that create melanin cant take place.
Albinism is inherited through a recessive allele. The parents may appear normal in which case they
are both carriers of the albino allele or 1+ parents may be albino themselves.
In the general human population about 1 in 30,000 is affected by albinism. As well as lacking
pigment in their skin hair and eyes their vision is poor / they are at risk of developing skin cancers
as they lack the protection of melanin.
The biochemical pathway involved in albinism shows another example of polygenic inheritance it
involves the breakdown of the amino acid phenylalanine by a series of enzymes. Other genes
involved in the pathway are also prone to mutations with very different results.

Adam Clarke www.brain-freeze.co.uk

The future of genetic diseases

Human genome project determine the locations, DNA nucleotide sequences and functions of all
the human genes 25-30,000 of them.
2008- 1000 Genomes Project detailed map of human genome DNA from 1000 people
Should be possible to identify the gene for all single-gene genetic disorders and provide screening
tests for them.
It should also clarify the situation in multifactorial diseases that result from a number of genes and
lifestyle factors. All this knowledge will raise some tough issues for society to consider.

Adam Clarke www.brain-freeze.co.uk