Quiz 5

Question 1

Somatic mutations

Answer 1

occur in any cell except germ cells and are not heritable

Question 2

Germ-line mutation

Answer 2

occur in gametes and inherited

Question 3

Autosomal mutation

Answer 3

occur within genes located on the autosomes

Question 4

X-linked and Y-linked mutations

Answer 4

occur within genes located on the X and Y chromosome, respectively

Question 5

Mutation

Answer 5

an alternation in DNA sequence

Question 6

Gene level

Answer 6

single-base pair substitutions

Insertion or deletion of one or more base pairs (in/del)

Question 7

Chromosome level

Answer 7

major alteration in chromosomal structure i.e. translocations, deletions or duplications

Question 8

Genome level

Answer 8

Aneuploidies

Question 9

A purine replaces a purine (A-G), or pyrimidine replaces a pyrimidine (C-T)

Answer 9

Transitions

Question 10

A purine and a pyrimidine are interchanged (A-C) or (G-T)

Answer 10

Transversions

Question 11

Point Mutation or Base substitution

Answer 11

change of one base pair to another

Question 12

Silent or Synonymous

Answer 12

still codes for the same amino acid

Question 13

Missense or nonsynonymous

Answer 13

Results in a different amino acid

Question 14

Nonsense mutation

Answer 14

May result in a stop codon (translation terminated prematurely)

Question 15

Frameshift mutations

Answer 15

results from insertions or deletions of a base pair

Question 16

Mutations can be classified as according to their phenotypic effects as ______. (7)

Answer 16

loss-of-function mutations
gain-of-function mutations
visible mutations
nutritional mutations
behavioral mutations
regulatory mutations
lethal mutations

Question 17

Copy-number variants (CNVs)

Answer 17

specific type of structural variant, due to indels of greater than 1 kb