General Exam 2

Question 1

autosomal dominant disorders

Answer 1

vertical pattern

disease is seen generation after degeneration

M&F equally

father to son transmission is possible

child of affected and unaffected parent has 50% risk

Question 2

autosomal recessive disorders

Answer 2

typically show a horizontal pattern

shown multiple times in same generation

M&F equally

child of affected carrier parent has 25% risk (bc recessive so both are carriers)

increase in the event of parental consanguinity

Question 3

consanguinity and recessive disorders

Answer 3

presents more often in autosomal recessive than other types

rarer the disease, more likely parents of affected are from same heritage

first cousin marriages are commonly seen in middle east

Question 4

ethnic groups with higher incidence

Tay sachs

Answer 4

common among Ashkenazi Jews b/c they marry ea. other

1 in 30, 1 in 250 among non Jewish population

Question 5

ethnic groups with higher incidence

Gaucher Type I

Answer 5

freq. among Ashkenazi Jews (1 in 855 v 1 in 40,000 in regular)

Question 6

clinical severity of hemophilia A and B correlates with

Answer 6

factor VIII level

Question 7

factor VIII level mild

Answer 7

garter than 5% normal factor level

bleeding only with significant trauma or surgery

Question 8

factor VIII level moderate

Answer 8

only 1-5% of normal factor level

bleeding and hemarthroses with mild trauma

Question 9

factor VIII level severe

Answer 9

less than 1% normal factor levels

spontaneous hemarthroses and bleed without trauma involved

Question 10

compare severity of DMD and BMD

Answer 10

DMD is more severe, caused by a FRAMESHIFT mutation (not x of 3)

BMD is less severe with slower progression, caused by In-Frame shift (x of 3)

Question 11

mutations DMD and BMD

Answer 11

DMD results in absence, onset is seen by 5

BMD causes decrease levels, onset is at age 11

DMC is common cause of mortality in both