Genetics 3

Question 1

Pyloric stenosis, neural tube defects, cleft lip/palate, CVD, lung disease (alpha 1 antitrypsin)

Answer 1

Threshold diseases

Question 2

With __________ inheritance, risk declines rapidly for more remote relatives

Answer 2

Multifactorial

Question 3

Found in neurons of cerebral cortex and hippocampus

Answer 3

Neurofibrillary tangles

Question 4

___________ in senile plaques caused by accumulation of amyloid precursor cleave product (APP Abeta)

Answer 4

Amyloid deposits

Question 5

Presenilin 1 and 2 required for

Answer 5

Processing of APP

Question 6

Mutations in ______ and ______ lead to overproduction of A-beta peptide and early (young) onset form of Alzheimer’s

Answer 6

Presinilin. APP

Question 7

Abnormal cleavage done by

Answer 7

Beta-secretase

Question 8

Occurs before 60 and often inherited as autosomal dominant.

Answer 8

Early onset Alzheimer’s

Question 9

More common. Multifactorial

Answer 9

Late onset Alzheimer’s

Question 10

Arginine at both sites

Answer 10

E4

Question 11

Cystine at both sites

Answer 11

E2

Question 12

Height, intelligence, weight, CVD, cancer, some forms of Alzheimer’s, autism, behavioral d/o

Answer 12

Multifactorial inheritance

Question 13

Proportion of observed variance due to genes

Answer 13

Heritability