Pedigrees

Question 1

pleiotropy

Answer 1

a lot of effects from one gene/variant

Question 2

sex-limited vs sex-influenced

Answer 2

sex-limited can only happen in one sex (because of organs), sex-influenced is more likely to happen in one sex (i.e. breast cancer)

Question 3

pseudoautosomal region

Answer 3

some genes in barr body remain active

Question 4

heteroplasmy

Answer 4

mix of normal and abnormal mitochondria

Question 5

threshold effect for disease

Answer 5

beyond this point, symptomatic disease develops (i.e. # of abnormal mitochondria in heteroplasmic individuals)

Question 6

homoplasmy

Answer 6

variant present in all mitochondria of cell or individual

Question 7

probability of event a AND probability of event b?

Answer 7

Product rule: P(a) x P(b)

Question 8

probability of event a OR event b?

Answer 8

Sum rule: P(a) + P(b)

Question 9

your 1st degree relative has variant - what are chances you have it?

Answer 9

50%

Question 10

ADA

Answer 10

protection for symptomatic genetic disabilities, must provide reasonable accomodations

Question 11

HIPAA

Answer 11

health related factors cannot be used to deny or limit coverage, but no protection for genetic info outside of a diagnosis

Question 12

GINA

Answer 12

insurance can’t use genetic info to set premium or determine eligibility; employers can’t request or use genetic info

Question 13

Patient Protection and Affordable Care Act

Answer 13

Protections for pre-existing conditions and discrimination protections

Question 14

Types of inheritance that have clear pattern of vertical transmission?

Answer 14

Autosomal Dominant and X-linked

Question 15

Vertical transmission from male to male?

Answer 15

Autosomal Dominant

Question 16

Appears to skip generations?

Answer 16

Autosomal Dominant with Incomplete Penetrance and Autosomal Recessive

Question 17

Some cells have autosomal variant, some cells do not

Answer 17

Mosaicism

Question 18

New mutations more common in severe conditions?

Answer 18

De Novo

Question 19

Child has recessive condition. What is risk that unaffected sibling is carrier?

Answer 19

2/3

Question 20

hemizygote

Answer 20

in males with sex linked conditions (XY), one copy of X with variant

Question 21

Vertical transmission but no male to male transmission?

Answer 21

X-linked and mitochondrial inheritance