Mutasi

A change in the DNA sequence of the gene. All cells aquire mutations as they divide. Rate of approx 10^-6 per gene per cell. Mutations can alter product of DNA, stop gene working or activate gene.

Types of mutation :

Deletion = DNA missing

Insertsion = extra DNA inserted

Expansion (amplification) = DNA repeat size has increased

Point Mutation = change in one base

In coding sequence :

AGC TTC GAC CCG (Wild Type)

AGC TGC ACC CG (Deletion)

AGC TTC CGA CCC G (Insertion)

AGC TTC TTC GAC CCG (Expansion)

ATC TTC GAC CGG (Point Mutation)

If the amino acid change, its called missense mutation. If amino acid appear, its called nonsense mutation. If the protein change, its called silence mutation.

Reference :

Medical Study Lecture Fakultas Kedokteran, Universitas Sumatera Utara