Mutations

Question 1

Point mutation

Answer 1

mutation that alters single base, leads to single-nucleotide variation (SNV)

Question 2

Base substitution mutation

Answer 2

Replacement of one base for another.

2 categories-
Transition: replaces puring with another purine (A to G) or pyrimidine with another pyrimidine (C to T)
Transversion: replaces purine with pyrimidine or reverse

Question 3

Silent mutation

Answer 3

do not have observable effect on phenotype

Question 4

Conservative

Answer 4

replace amino acid with chemically similar one

Question 5

Nonconservative

Answer 5

replace amino acid with chemically different one

Question 6

Nonsynonymous/missense mutation

Answer 6

has observable effect on phenotype

Question 7

Nonsense mutations

Answer 7

changes a codon from one that encodes an amino acids to a stop codon, causes translation to stop prematurely and produce truncated protein

Question 8

Polymorphisms

Answer 8

genetic difference between individuals in population

Question 9

Frameshift mutation

Answer 9

insertions or deletion that don’t occur in multiple of 3 shift reading frame in mRNA, randomizes downstream sequence of amino acids

Question 10

Indel

Answer 10

gain/loss of 1-50 bp

Question 11

Structural variation

Answer 11

affects more than 50 bp

Question 12

Copy number variation

Answer 12

genomic rearrangements that result in differences in number of copies of particular genomic region, result of loss of DNA by deletion or gain by duplication/insertion