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
