You are on page 1of 1

Genes and Mutations

Mutation: A change in the nucleotide sequence of a gene which may then result in an altered
polypeptide.
A very small percentage of DNA actually codes for a protein. The function of the remainder of
DNA is uncertain.
DNA controls all the activities of the cell because these activities are controlled by enzymes
(proteins) and DNA is a code for proteins. Thus, DNA controls what proteins (enzymes) are
made.
A group of three bases code for an amino acid, so DNA has a triplet code.
- This genetic code is universal.
Sickle cell anaemia:
- The gene which codes for the beta-globin in haemoglobin has a mutation.
- The normal allele, HbA of haemoglobin contains the codon CTT coding for glutamic acid.
- In the allele which causes sickle cell anaemia (HbS) a mutation called a substitution occurs
and the CTT codon is replaced by CAT which codes for valine.

You might also like