Genetics

Question 1

define precision medicine

Answer 1

form of testing to identify a subgroup of patients that respond to a specific treatment

Question 2

what is tuberous sclerosis

Answer 2

most common genodermatoses

Question 3

presentation of tuberous sclerosis

Answer 3

ash leaf macule
facial angiofibroma
periungual fibroma
cortical tubers (seizures)
enamel pitting

Question 4

genetics of tuberous sclerosis

Answer 4

AD in TSC1 and TSC2 in chromosomes 9 and 16 that code for tubers and hamartin (inactivates these tumour suppressors)

Question 5

define genetic heterogeneity

Answer 5

mutations in different genes can lead to the same phenotype

Question 6

example of a condition that shows genetic heterogeneity

Answer 6

tuberous sclerosis

Question 7

describe epidermolysis bullosa

Answer 7

group of genetic fragility conditions with more than 10 genes involved, can be dominant, recessive, new mutations or acquired

Question 8

three main types of epidermolysis bullosa

Answer 8

simplex
junctional
dystrophic

Question 9

presentation of neurofibromatosis type 1

Answer 9

cafe au lait macules
neurofibromas
axillary/inguinal freckling

Question 10

genetics of neurofibromatosis type 1

Answer 10

GDP-Ras pathway

Question 11

define haploinsufficiency

Answer 11

only one copy of gene is working so half functional protein is made

Question 12

define dominant negative

Answer 12

expression of abnormal protein interferes with normal protein

Question 13

gain of function

Answer 13

mutant protein gains new function affecting cell processes

Question 14

complete loss of protein

Answer 14

autosomal recessive- 2 faulty copies of gene produce no protein