MUTATIONS AND GENETICS

Typical Eukaryotic Gene Structure

Open Reading Frame (ORF) or

Promoter Protein coding region Terminator

Region where RNA Region where the

Polymerase enzyme signals ensure the
binds to start Transcription correct stopping of
Transcription
Region where mRNA
is synthesised for
Translation.
Codon Table for the 20 Amino Acids
 Synonymous Silent mutations

...TAC... mutation ...TAT...

DNA
...ATG... ...ATA...

RNA ...UAC... ...UAU...

Polypeptide tyrosine tyrosine

No change in the polypeptide
1. Missense mutations

...TAC... mutation ...AAC...

DNA
...ATG... ...TTG...

RNA ...UAC... ...AAC...

Polypeptide tyrosine asparagine

One amino acid is changed in the polypeptide.
2. Nonsense mutations
(mutation results in a stop codon)
...TAC... mutation ...TAG...
DNA
...ATG... ...ATC...

RNA ...UAC... ...UAG...

Polypeptide tyrosine stop codon

A stop codon is created and a truncated polypeptide is made.
Classification of mutations according
to the effect on the DNA molecule
Deletion: A block of one or more
nucleotide pairs is lost from a DNA
molecule.
5’- TCTCGCATGGTAGGT -3’
3’- AGAGCGTACCATCCA -5’

5’- TCTCTGGTAGGT -3’

3’- AGAGACCATCCA -5’
Classification of mutations according
to the effect on the DNA molecule
Insertion: The addition of one or more
nucleotide pairs.
5’- TCTCGCATGGTAGGT -3’
3’- AGAGCGTACCATCCA -5’

5’- TCTCAAGCATGGTAGGT -3’

3’- AGAGTTGCAACCATCCA -5’
 Frameshift mutations
Insertions or deletions that change
the translational frame
ATGCAAGTTG....
one base pair deletion

ATGAAGTTG....
Two changes in polypeptides are possible:
(1) every amino acid downstream of the mutation is change
(2) a truncated (shortened) protein is produced.
Frameshift mutations change the
translational reading frame.

ATGCAAGTTGA….
met gln val

one base pair deletion

(Frameshifts occur only if
insertion or deletion is in the
ATCAAGTTGA
ile lys leu reading frame section of a
protein-encoding gene.)
Hemoglobin Molecule
Molecular events leading the
formation of sickle cells
Sickled Red Blood Cells Under Magnification

Clogging of blood vessels

 Sickle Cell Anemia illustrates
several points:

1. A gene mutation can alter a single amino acid within the

polypeptide coded by that gene (Missense Point Mutation).

2. The change need not lead to the absence of the gene product
or of its function, hemoglobin S is functional in O2 transport,
although it is less efficient.

3. In heterozygous form (Sickle Cell Trait) it is often possible to

detect the products of both alleles (CODOMINANCE).
CODOMINANCE