Question

Match each type of mutation to the correct example. Nonsense mutation A codon in the PAH gene with a C-to-T mutation still specifies leucine. Silent mutation An allele of the CFTR gene where a codon mutated from AAG to TAG. Missense mutation A GGT (glycine) to GAT (aspartic acid) mutation in the KRAS gene A 2 base pair deletion in the ORF of the gene encoding the Retinitis Pigmentosum GTPase Regulator Frameshift mutation Promoter mutation A T-to-G mutation - 35 bases upstream of the transcription start site of the PIGM gene that abolishes transcription

Answer 1

point mutations are changes in one nucleotide in the sequence.

a silent mutation is point mutation which changes the codon but does not change the amino acid. ex. C to T mutation in the PAH which still specifies leucine.

a missense mutation is point mutation which changes the codon and the amino acid. ex. GTT to GAT mutation in the KRAS gene.

the nonsense mutation is a point mutation that changes a codon to a stop codon ex.the mutation in the CFTR gene which changes the AAG to TAG.

Frameshift mutations are due to deletion or insertion of nucleotides which are not in the multiples of three changes the reading frame ex.2 basepair deletion in the gene coding retinitis pigmentosum GTPase regulator.

the promoter mutations are mutations which occur in the promoter, -35 region is part of the promoter.

A codon in the PAH gene with a C-to-T mutation still specifies leucine. Silent mutation An allele of the CFTR gene where a codon mutated from AAG to TAG. Nonsense mutation A GGT (glycine) to GAT (aspartic acid) mutation in the KRAS gene Missense mutation A 2 base pair deletion in the ORF of the gene encoding the Retinitis Pigmentosum GTPase Regulator Frameshift mutation A T-to-G mutation - 35 bases upstream of the transcription start site of the PIGM gene that abolishes transcription Promoter mutation