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POM Exam 1 > Pedigrees > Flashcards

Flashcards in Pedigrees Deck (21)
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1
Q

pleiotropy

A

a lot of effects from one gene/variant

2
Q

sex-limited vs sex-influenced

A

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)

3
Q

pseudoautosomal region

A

some genes in barr body remain active

4
Q

heteroplasmy

A

mix of normal and abnormal mitochondria

5
Q

threshold effect for disease

A

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

6
Q

homoplasmy

A

variant present in all mitochondria of cell or individual

7
Q

probability of event a AND probability of event b?

A

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

8
Q

probability of event a OR event b?

A

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

9
Q

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

A

50%

10
Q

ADA

A

protection for symptomatic genetic disabilities, must provide reasonable accomodations

11
Q

HIPAA

A

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

12
Q

GINA

A

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

13
Q

Patient Protection and Affordable Care Act

A

Protections for pre-existing conditions and discrimination protections

14
Q

Types of inheritance that have clear pattern of vertical transmission?

A

Autosomal Dominant and X-linked

15
Q

Vertical transmission from male to male?

A

Autosomal Dominant

16
Q

Appears to skip generations?

A

Autosomal Dominant with Incomplete Penetrance and Autosomal Recessive

17
Q

Some cells have autosomal variant, some cells do not

A

Mosaicism

18
Q

New mutations more common in severe conditions?

A

De Novo

19
Q

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

A

2/3

20
Q

hemizygote

A

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

21
Q

Vertical transmission but no male to male transmission?

A

X-linked and mitochondrial inheritance