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Flashcards in Quiz 5 Deck (17)
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1

Somatic mutations

occur in any cell except germ cells and are not heritable

2

Germ-line mutation

occur in gametes and inherited

3

Autosomal mutation

occur within genes located on the autosomes

4

X-linked and Y-linked mutations

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

5

Mutation

an alternation in DNA sequence

6

Gene level

single-base pair substitutions
Insertion or deletion of one or more base pairs (in/del)

7

Chromosome level

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

8

Genome level

Aneuploidies

9

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

Transitions

10

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

Transversions

11

Point Mutation or Base substitution

change of one base pair to another

12

Silent or Synonymous

still codes for the same amino acid

13

Missense or nonsynonymous

Results in a different amino acid

14

Nonsense mutation

May result in a stop codon (translation terminated prematurely)

15

Frameshift mutations

results from insertions or deletions of a base pair

16

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

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

17

Copy-number variants (CNVs)

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