Exam 2 Vocabulary Flashcards
Occur in any cell except germ cells and are not heritable
Somatic mutations
Occur in gametes and inherited
Germ-line mutation
Occur within genes located on the autosomes
Autosomal mutation
Occur within genes located on the X and Y chromosome, respectively
X-linked and Y-linked mutations
An alternation in DNA sequence
Mutation
Single-base pair substitutions
Insertion or deletion of one or more base pairs (in/del)
Gene level
Major alteration in chromosomal structure i.e. translocations, deletions or duplications
Chromosome level
Aneuploidy
Genome level
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
Change of one base pair to another
Point Mutation or Base substitution
Still codes for the same amino acid
Silent or Synonymous
Results in a different amino acid
Missense or nonsynonymous
May result in a stop codon (translation terminated prematurely)
Nonsense mutation
Results from insertions or deletions of a base pair
Frameshift mutation
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
Specific type of structural variant, due to indels of greater than 1 kb
Copy-number variants (CNVs)
Change in gene frequencies in small populations due purely to chance
Random Drift
Mating system in which each animal has an equal opportunity to mate with any animal of the opposite sex
Random Mating
Mating system in which males are not randomly assigned to females
Nonrandom mating
Mating of similar individuals (i.e. black to black, tall to tall)
Positive assortative mating
Mating of dissimilar individuals (i.e. black to red, tall to short)
Negative assortative mating