Mutations

Gene Mutation
• Mutation: a change in the nucleotide sequence of a gene, which may then
result in an altered polypeptide.

• Substitution: 1 nucleotide is replaced by another

• Deletion: 1 nucleotide is removed from the sequence

• Insertion: 1 nucleotide is added to the sequence

• Frameshift: Occurs in insertion and deletion mutation. They cause all the triplet
codes to change due to the nature of the genetic code being non-overlapping.
So Why are Gene Mutations important to
know?
• Some mutations can cause cancer or genetic disorders, while many
mutations have no observable effect, this is due to the degenerate
nature of the genetic code and the presence of introns (Non-coding
genes).
How can mutations in gene cause a disease?
• A change in dna coding can cause a change in the amino acid
sequence of a protein.
• So?
• The amino acid sequence determines the side chain group hence this
will cause different bonding which in turn will cause a different
folding.
• So?
• The different folding will change the shape of active site, preventing
the binding of a substrate.
 Cystic Fibrosis
• Cystic fibrosis is caused by a recessive allele that codes for a
transport protein called CFTR, causing the production of abnormal
thick mucus that is difficult to be removed
• Other body parts such as pancreatic duct can become blocked as
well as reproductive ducts causing infertility

CFTR effects on lungs:

• Due to mucus not being moved effectively by cilia, bacteria and dust accumulate, causing
infections
• Reduces gaseous exchange, by making it a longer diffusion pathway
• Causes difficulty in breathing
• Lungs may be scarred

• The CFTR gene normally codes for a transport protein that allows chloride ions to pass out of cell.
Chloride ions are essential to be transported
out so that they cause a concentration
gradient outside, hence causing water to move
out of cells by osmosis.

The water mixes with the mucus making it

easily removed by the sweeping movement of
cilia.

The recessive allele codes for a faulty version

of this protein, not allowing Cl- ions to pass out
of the cell, so water doesn’t move out and
mucus remains thick.
Genetic Screening
Genetic screening is the analysis of a person’s DNA to check for the presence of a
particular allele.

Preimplantation genetic diagnosis: At the 8-cell stage during an IVF, one cell can be
removed and checked for diseases; if embryo is healthy, then it is implanted, if not it is
then discarded.

Prenatal Screening: testing embryo and the fetus

• Amniocentesis: performed at 15-17 weeks, a sample of amniotic fluid is taken and

cells are checked for any genetic abnormalities

• Chorionic Villi Sampling (CVS): performed at 10-12 weeks, a small sample of tissue is
taken from the placenta then cells are checked for genetic abnormalities
• Ethical Views:

• Parents are able to know whether they are carriers or not. Allowing them to make informed
decisions regarding having children
• Parents can make an informed decision about abortion of an embryo carrying a genetic
disease

• False positives/negatives could result in decisions being made based on wrong information
e.g. Loss of a healthy life
• Fear of social stigma could force parents to abort an affected embryo
• Many religious groups stand against abortion. Stating that who chooses whether someone
gets to live or die
Amniocentesis.

• A needle is inserted into the amniotic fluid that surrounds the foetus
and fluid is withdrawn.
• Foetal cells in the fluid are then examined for the presence of genetic
abnormalities such as Down syndrome and cystic fibrosis.
• As amniocentesis carries a 1% risk of miscarriage, it is usually only
offered to pregnant women who are at a higher risk of having a child
with a genetic abnormality.
• Mothers with a greater risk include:
• Those who have previously carried a foetus with a genetic abnormality.
• Those who have a family history of a genetic condition.
• Older mothers.
• Those where possible problems have been identified in an earlier medical
examination, for example a blood test.

When screening for Down syndrome, pregnant mothers are offered a blood test
between 10–14 weeks of pregnancy.
• The blood test determines if the possibility of having a Down syndrome child is
raised.
• Amniocentesis is normally then offered to those mothers who appear to have a
higher risk.
• While not as accurate as amniocentesis, the blood test carries no risk to the foetus or
the mother; it simply identifies those women who may wish to take the riskier
amniocentesis procedure.