Intro

Question 1

Single nucleotide polymorphism (SNP)

Answer 1

Substitution of a nucleotide (NOT an insertion or deletion!)
80-90% of mutations
<1% lead to functional changes in proteins (b/c multiple codons can be used for one AA)

Question 2

Frame-shift

Answer 2

insertion or deletion

Question 3

Silent mutation

Answer 3

does not change the way the protein is expressed

Question 4

Conservative missense mutation

Answer 4

change in AA but does not change function of protein

Question 5

Nonconservative missense mutation

Answer 5

change in AA and change in function of resulting protein

Question 6

Nonsense mutation

Answer 6

mutation codes for early stop codon and the rest of the protein does not get expressed

Question 7

alleles

Answer 7

variants of a gene

Question 8

monogenic traits

Answer 8

one gene determines one trait

Question 9

polygenic traits

Answer 9

multiple genes determine one trait
more common
ex: diabetes

Question 10

Quantitative traits (expressivity)

Answer 10

traits that vary in the extent to which they are expressed in an individual
ex: height, weight

Question 11

Incomplete Penetrance

Answer 11

not every individual with the genotype expresses the phenotype

Question 12

Multifactorial traits

Answer 12

both environmental and genetic components

different phenotypes are due to gene-environment interaction

Question 13

epigenetics

Answer 13

study of the genetics changes that come from interacting with your environment (once a gene has been changed, it can be inherited by future offspring)