MRPC genetics bullshit

Question 1

ADPKD type 1
inheritance
chromosome

Answer 1

85% are type 1
Chr 16
AD

Question 2

ADPKD type 2
inheritance
chromosome

Answer 2

15% cases
Chr 4

Question 3

Nephrogenic DI gwenetic mutation

Answer 3

more common form affects the vasopression (ADH) receptor

less common form results from a mutation in the gene that encodes the aquaporin 2 channel
(Abnormal AVPR2 gene on chromosome Xq28)

Question 4

C1 inhibitor (C1-INH) protein deficiency

Answer 4

hereditary angioedema
C1-INH is a multifunctional serine protease inhibitor
probable mechanism is uncontrolled release of bradykinin resulting in oedema of tissues

Question 5

C1q, C1rs, C2, C4 deficiency (classical pathway components)
causes:

Answer 5

predisposes to immune complex disease
e.g. SLE, Henoch-Schonlein Purpura

Question 6

C3 deficiency
causes

Answer 6

recurrent bacterial infections

Question 7

C5 deficiency
predisposes to

Answer 7

Leiner disease
recurrent diarrhoea, wasting and seborrhoeic dermatitis

Question 8

C5-9 deficiency
causes

Answer 8

encodes the membrane attack complex (MAC)
particularly prone to Neisseria meningitidis infection

Question 9

HLA-A3

Answer 9

haemochromatosis

Question 10

HLA-B51

Answer 10

Behcet’s disease

Question 11

HLA-B27

Answer 11

psoriatic arthritis
ankylosing spondylitis
reactive arthritis
acute anterior uveitis

Question 12

HLA-DQ2/DQ8

Answer 12

coeliac disease

Question 13

HLA-DR2

Answer 13

narcolepsy
Goodpasture’s

Question 14

HLA-DR3

Answer 14

dermatitis herpetiformis
Sjogren’s syndrome
primary biliary cirrhosis