43

A mutation is a permanent change in the DNA of an organism. A mutation can happen when
gametes form, although they also occur during the division of body cells.
Some mutations occur when just one, or small number of nucleotides, are miscopied during
replication→ point mutations or gene
mutations

• Substitution, where one base

substitutes another
• Deletion, where a base is
completely lost from the
sequence
• Insertion, when an extra base is
added, which may be a
repetition of one the bases
already there or a different base
entirely

Chromosomal mutations- involve changes in the position of whole genes within the
chromosomes
Whole-chromosome mutations- an entire chromosome is lost during meiosis or duplicated
in one cell by errors in the process

How Gene Mutations Can Affect the Phenotype

Mutations can produce variation within an organism

• Most mutations are neutral, they neither improve nor worsen the changes of survival
• Very occasionally, a mutation occurs that produces a new superior protein
• Some mutations cause much damage and disrupt the whole biochemistry of the
organism

Random mutations in genetic material of the gametes are the cause of many human genetic
diseases. Examples include:

• Thalassemia, in which the blood proteins are not manufactured correctly

• Cystic fibrosis, in which a membrane protein does not function properly
Mutations in the somatic cells of the body as they divide result in many different types of
cancer, depending on where in the body they occur

44
However, most mutations will have no observable effects on the organism. This may be
because:

• The mutations occur in part of the non-coding DNA which does not affect the way
the genetic code is read
• The code is degenerate, and on small change in the code may not alter the amino
acid coded for

Sickle Cell Disease: When the Code Goes Wrong

• Affects the protein chains of the haemoglobin in the red blood cells
• It is the result of point mutation
• As a result, haemoglobin molecules stick together to form rigid rods that give the red
blood cells a sickle shape
• They do not carry oxygen effectively and can prevent the blood flowing in the
capillaries
• This can cause severe pain and even death to the people affected

Mutations in the body cells can cause

problems such as cancer. The most
damaging mutations occur in the
gametes because they will be passed on
to future offspring. These are the
mutations that lead to genetic disease.
X-rays, ionizing radiation and certain
chemicals are called mutagens because
exposure to them increase the rate at
which mutations occur.

45
Phenotype is the physical and chemical characteristics that make up the organism. The
phenotype is partly the result of the genotype (the combination of alleles) passed from
parents to their offspring and partly the effects of the environment in which the organism
lives.
Differences in the genotype between individuals of a species are due to:

• Rearrangement of genes during meiosis

• Inheritance of genes from two different individuals in sexual reproduction
The cells of every individual
organism within a species contain
the same number of chromosomes.
Half of the chromosomes are
inherited from mother and half
from the father. The two sets can
be arranged as matching pairs
called homologous pairs
Along each chromosome are hundreds of genes. Each gene is a different segment of DNA
coding for particular protein or polyprotein. The chromosomes in the homologous pair carry
the same genes-except for sex chromosomes. The gene for any particular characteristic is
always in the same position or locus, which means that you usually carry two genes for each
characteristic.
Each gene exists in slightly different versions called
alleles (code for small plant or tall plant). If both
alleles that code for particular characteristic are
identical, then the individual is homozygote. If the
alleles are different, it is called heterozygote.
Dominant alleles are always expressed and
recessive alleles are shown only if both alleles code
for recessive feature.

Monohybrid Crosses
True breeding- a homozygous organism which will
always produce the same offspring when crossed
with another true-breeding organism for the same
characteristic.
Monohybrid cross- a genetic cross where only one
gene for one characteristic is considerate

46
Codominance- in heterozygotes where both
alleles at a gene locus are fully expressed in the
phenotype

Sampling Errors
• Reproduction is a result of chance. The
combination of alleles in each gamete is
completely random and so is the joining of
each particular gametes. However,
theoretical diagrams that we draw never
show this.
• Some offspring die before they can be
sampled
• Inefficient sampling technique. For example, it is very easy to allow a few Drosophila
to escape

Genetic Pedigree Diagrams

The use for family tree or genetic pedigree can show what happens in reality over long
period of time. Genetic pedigrees are also very useful for identifying sex-linked traits.

47
 • The X and Y chromosomes are known as the sex chromosomes. All the other are
known as autosomal.
• Female has two X chromosomes→ homogametic
• Male has one X and one Y chromosome→heterogametic

• Genes that are carried on the X chromosomes are said to be sex-linked. Recessive
allele on the X chromosome passed from a female parent to male offspring will be
expressed in the phenotype because there is no corresponding allele on the
homologous Y chromosome

Sex Linkage in Humans

• Almost every aspect of your phenotype results from interactions between variation
of multiple genes, together with transcription factors and epigenetics

Sex-linked diseases
• Some are relatively minor, while some others may be life-threating or fatal
• Red-Green color blindness- people have difficulty seeing differences between red
and green

48
• Haemophilia is much more severe
sex-linked trait in which one of the
proteins needed for blood to cloth
is missing
• The components of the blood
clothing process are coded for by
multiple genes
• Many of these genes are carried on
the X chromosomes

• Causes severe digestive and respiratory problems as well as very salty sweat
• Often causes infertility
• The chlorine transport system of the exocrine glands don’t function properly leading
to production of a thick sticky mucus
• This leads to blockage of the airways of the lungs; it also effects the digestive system
and the reproductive system

49
The Inheritance of Cystic Fibrosis

50
 Symptoms of Cystic Fibrosis
The Respiratory System
• Thick sticky mucus builds up in the tiny airways of the lungs and reduces the flow of
air into the alveoli
• Often obstructs smaller bronchioles completely
• Reduced airflow means smaller concentration gradient
• The mucus also reduces the surface area available for gas exchange
• Severe coughing
• Breathless and tiredness
• Mucus is so thick that the cilia lining cannot move it out of the system
• Without treatment lungs gradually fill up with mucus

• Bacteria and pathogens that are breathed in are trapped in the mucus and cannot be
moved out
• Dehydrated surfaces of cells affected by cystic fibrosis lose their natural antibacterial
properties and white blood cells cannot function properly.

The Digestive System

• The enzymes from pancreas needed for digestion pass from the pancreas into your
duodenum along a tube known as the pancreatic duct.
• Mucus is produced by the cells lining.
• The mucus in pancreatic duct will be very sticky and thick
• It often blocks the pancreatic duct so that the enzymes do not reach the duodenum
• The food is not digested properly
• Pancreas starts to digest itself
• If this affects the cell that made insulin, the person will develop diabetes

The Reproductive System

• Women with cystic fibrosis produce fertile eggs, but the mucus is so thick that the
sperm cannot reach it
• Men with cystic fibrosis are often infertile. The sperm cannot leave the testis

The Sweat Glands

• More concentrated and salty sweat
• Without functioning CFTR protein, the chloride ions remain in the sweat, and so do
the sodium ions
• This can cause problems with nervous system and heart

51
 • When whole population is tested for
genetic disease→genetic screening

Prenatal Screening
• Is used to try and discover if s fetus is
affected by a serious condition early
in pregnancy
• These tests are carried out on fetal
cells collected from the mother.
• There are two methods:

Amniocentesis
Disadvantages:

• Can be carried out late in the

pregnancy, making it very difficult for
parents it termination is necessary
• The results are not available until 2-3
weeks after the test
• Carries 1% risk of spontaneous
abortion

Chorionic Villus Sampling

Disadvantages

• 1% risk of spontaneous abortion

• Problems in the genes on the X
chromosomes cannot be detected
by this technique

52
 Preimplantation Genetic Diagnosis
• Egg and sperm are fertilized outside the body
• After few cell divisions, a single cell is removed from each embryo
• The genetic make-up is checked and only those embryos free from the disease are
placed in the mother’s uterus to implant and grow
• This removes the faulty allele from the gene pool

Difficult Decisions
• Genetic screening is against some religious beliefs
• False positives or false negatives
• The tests may cause miscarriage
• Very difficult for parents to come to terms with the fact that their child will not be
healthy

53