lecture 4- human disease genetics

Question 1

germline mutations

Answer 1

inherited mutations passed on via gametes

Question 2

somatic mutations

Answer 2

no passed on to the next generation

Question 3

silent mutations

Answer 3

have no effect on phenotype

occur in intergenic regions, introns (exons)

Question 4

missense mutations

Answer 4

change in an amino acid

may alter protein’s ability to function

Question 5

nonsense mutations

frameshift mutations

Answer 5

insertion, deletion

results in truncated protein

Question 6

triplet repeat expansion

Answer 6

stretches of triplet repeats

Question 7

chromosome re-arrangements

Answer 7

translocations, inversions, aneuploidy

Question 8

Monogenic disease- Haemophilia A and B

Answer 8

blood clotting disorder

males only have 1X chromosome