Lecture 40

Question 1

What are multigene disorders?

Answer 1

many diseases require mutations in multiple genes + environment

Question 2

What is an example of multigene disorder?

Answer 2

coronary artery disease

NOT traceable with simple pedigree
no simple AR/AD/XR/XD pattern

Question 3

blank percentage of achondroplasia (AD) are new germline mutations. Only blank percent is inherited (pedigrees can look like skipped generations even for AD

Answer 3

80

20

Question 4

What is incomplete penetrance? Give an example

Answer 4

a person has the mutation but does not show the disease

LHON (M)

some people with the mtDNA mutation never lose vision, making pedigrees ambiguous