Quiz 5 Flashcards
(17 cards)
Somatic mutations
occur in any cell except germ cells and are not heritable
Germ-line mutation
occur in gametes and inherited
Autosomal mutation
occur within genes located on the autosomes
X-linked and Y-linked mutations
occur within genes located on the X and Y chromosome, respectively
Mutation
an alternation in DNA sequence
Gene level
single-base pair substitutions
Insertion or deletion of one or more base pairs (in/del)
Chromosome level
major alteration in chromosomal structure i.e. translocations, deletions or duplications
Genome level
Aneuploidies
A purine replaces a purine (A-G), or pyrimidine replaces a pyrimidine (C-T)
Transitions
A purine and a pyrimidine are interchanged (A-C) or (G-T)
Transversions
Point Mutation or Base substitution
change of one base pair to another
Silent or Synonymous
still codes for the same amino acid
Missense or nonsynonymous
Results in a different amino acid
Nonsense mutation
May result in a stop codon (translation terminated prematurely)
Frameshift mutations
results from insertions or deletions of a base pair
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
Copy-number variants (CNVs)
specific type of structural variant, due to indels of greater than 1 kb
