Genetics

Question 1

Which enzyme deficiency causes atrophy of the choroid and retina?

Answer 1

Ornithine aminotransferase

Question 2

Which enzyme deficiency causes recurrent convulsions and ketoacidosis?

Answer 2

Acetyl coenzyme-A acetyltransferase

Question 3

Which enzyme deficiency causes high levels of ammonia?

Answer 3

Argininosuccinic acid synthase

Question 4

Which enzyme deficiency causes neurological deterioration and peripheral retinal pigmentation?

Answer 4

Glutathione synthase

Question 5

Which enzyme deficiency causes lipaemia retinalis?

Answer 5

Lipoprotein lipase

Question 6

What is the gene mutation associated with Marfan’s?

Answer 6

Fibrillin-1 (FBN1)

Question 7

What is/are the gene mutation(s) associated Ehlers Danlos?

Answer 7

COL3A1, COL5A1, ADAMTS-2, PLOD1

Question 8

What is the gene mutation associated with Acute Intermitted Porphyria?

Answer 8

HMBS

Question 9

What proteins do the PKD1 and PKD2 genes code for respectively? What is the disease associated with defects in these genes?

Answer 9

Policystin 1 and Polycystin 2.

Disease: Autosomal dominant (adult) polycystic kidney disease (PKD)

Question 10

What is the genetic defect responsible for Gilbert’s syndrome?

Answer 10

UGT1A1 gene mutation (decreased activity of the bilirubin uridine diphosphate glucuronosyltransferase enzyme)

Question 11

What is the gene mutation responsible for the development of Autoimmune polyglandular syndrome type 1?

Answer 11

Autoimmune regulator (AIRE) gene

Question 12

What is the mode of inheritance of Haemophilia B?

Answer 12

X linked recessive. (presents only in males when both Factor IX genes are affected)