Genes

Question 1

UCP2 gene

Answer 1

gene associated with tumurigenesis and cardiovascular protection

Question 2

GRIN2A gene

Answer 2

encodes subunit of NMDA receptors –> neurological disease + factor in HBV disease progression

Question 3

HLA-DQ1 gene

Answer 3

associated with coeliac disease

Question 4

PNPLA3

Answer 4

associated with NAFLD

Question 5

C282Y mutation

Answer 5

hereditary haemachromatosis

Question 6

UBA1 gene

Answer 6

VEXAS syndrome

Question 7

What is the genetic basis of familial adenomatous polyposis (FAP)?

Answer 7

due to loss of adenomatous polyposis coli APC gene on chromosome 5

Question 8

HLAB*1502

Answer 8

SJS in asian people

Question 9

GLA gene

Answer 9

fabry disease, x-linked

Question 10

What is the genetics of Turner syndrome

Answer 10

chromosomal- only one X chromosome

Question 11

ADAMTS13

Answer 11

deficiency <10 likely TTP

Question 12

What does EGFR Exon 20 relate to?

Answer 12

related to NSCLC, confers resistance to EGFR directed TKI eg 3rd Gen
Osimertinib and is difficult to treat!

Question 13

What is MELAS syndrome and mode of inheritance

Answer 13

mitochondrial inheritance
mitochondrial encephalopathy
lactic acidosis
stroke-like episodes

Question 14

What is the genetic basis of alpha-1 anti trypsin deficiency

Answer 14

Single Amino Acid Substitution
SERPINA1 gene autosomal co-dominant

Question 16

PALB2 gene is found in?

Answer 16

breast cancer, ovarian and prostate