genetics

Question 1

what is the molecular basis of duchenne muscular dystrophy

Answer 1

disruption of DMD gene on X chromosome

this forms dystrophin which is an important structural unit in the membrane of muscle cells

Question 2

what is the inheritance pattern of DMD

Answer 2

X linked

Question 3

what is the chance of a son getting DMD if the mother has the gene

Answer 3

1 in 2

Question 4

what genetic test would you advise for a woman with dmd gene

Answer 4

chorionic villus sampling
determine the sex of the embryo
do molecular analysis to see if he has the gene

Question 5

what is the molecular basis of tay sachs

Answer 5

HEXA gene

cells are unable to break down gangliosides which accumulate in cells

Question 6

what is the inheritance of tay sacha

Answer 6

autosomal recessive

Question 7

in what population is the tay sachs gene more common

Answer 7

Ashkenazi jewish

Question 8

what is the molecular basis of charcot marie tooth

Answer 8

peripheral myelin protein 22 on chromosome 17

normally a component of the myelin sheath

Question 9

what is the inheritance pattern of CMT

Answer 9

autosomal dominant

too much protein is produced

Question 10

what could a chromosome imbalance cause

Answer 10

miscarriage

e.g. trisomic for part of one chromosome and monosomic for a part of another