Genetics

Question 1

Polymorphism

Answer 1

2+ clearly different phenotypes exist in the same population of a species

Question 2

Penetrance

Answer 2

Frequency with which a genotype manifests itself in a given phenotype

Question 3

Metacentric

Answer 3

Centromere roughly in the middle

Question 4

Submetacentric

Answer 4

Shorter p arm

Question 5

Acrocentric

Answer 5

Small amount of DNA in p arm

Question 6

Euchromatin

Answer 6

Light staining, early replicating, transcribed/translated DNA segments

Question 7

Heterochromatin

Answer 7

Dark staining, late replicating, remains condensed

Question 8

Haplotype

Answer 8

Series of alleles found at linked loci on a single chromosome (combination of alleles at adjacent loci on a chromosome that are inherited together)

Question 9

Compound heterozygous

Answer 9

2 different mutant alleles at a give locus (eg. deltaF580/R1066C in CF)

Question 10

Double heterozygous

Answer 10

1 mutant allele at each of 2 different loci

Question 11

HLA status

Answer 11

Human leukocyte antigen- strong association w/ autoimmune disorders
DR2- protective
DR3- antibody against pancreatic B cells (later onset)
DR4- antibody against insulin (early onset)
Can have DR3 + DR4

Question 12

TCF7L2

Answer 12

Transcription factor in WNT pathway (proglucagon synthesis)

Homozygous individuals have 2x increased risk for T2DM

Question 13

PPARG

Answer 13

Associated with T2DM risk

Question 14

FTO

Answer 14

Complex pathway, modulates methylation of RNA

Associated w/ risk for obesity and CAD