The table below represents the DNA sequence with regards to sickle cell anaemia.

Describe the
potential causes and effects of this mutation.

Recall (1 mark each)
1. Sickle cell anaemia is a germinal mutation meaning it can be passed to progeny
2. Recessive gene
3. Caused by a point mutation
4. As a result of a mutagen such as radiation, chemical etc.
5. Causes the haemoglobin in red blood cells to distort to a sickle shape when deoxygenated.
The sickle-shaped blood cells clog in the capillaries, cutting off circulation.
Synthesis (1 mark each)
6. Caused by a substitution of a nucleotide on the 6
th
amino acid
7. This substitution is called a transversion mutation (purine replaces a pyrimidine or vice
versa)
8. This change in a codon leads to the amino acid valine rather than glutamic acid
9. Hydrophobic amino acid valine takes the place of hydrophilic glutamic acid
10. This change is considered a non-conservative missense mutation

Normal ATG GTG CAC CTG ACT CCT GAG GAG AAG TCT GCC GTT ACT

Sickle cell anaemia ATG GTG CAC CTG ACT CCT GTG GAG AAG TCT GCC GTT ACT

Three major classes of conditional lethal mutants:
1. Auxotrophs are unable to synthesize an essential metabolite that is
synthesized by prototrophs. Auxotrophs can grow only when the essential
metabolite is supplied in the medium
2. Temperature-sensitive mutants will grow at one temperature but not at
another
3. Suppressor-sensitive mut




DNA Repair Mechanisms

damage and initiate repair processes when damage is detected

provide examples
DNA Repair Mechanisms in E. coli
-dependent repair (photoreactivation)


eplication repair
-prone repair system (SOS response)

Describe the general approach used in site-directed mutagenesis:

Somatic or germinal
Spontaneous or induced