Genetics

Question 1

What are the patterns of inheritance? (6)

Answer 1

AR, AD, XLD, XLR, Y-linked, mitochondrial

Question 2

Polygenic disorders are identified using which type of study?

Answer 2

GWAS

Question 3

What is this pattern of inheritance?

Answer 3

Autosomal Dominant

Question 4

What is this pattern of inheritance?

Answer 4

Autosomal Recessive

Question 5

What is this pattern of inheritance?

Answer 5

X-linked dominant

Question 6

What is this pattern of inheritance?

Answer 6

X-linked recessive

Question 7

What is this pattern of inheritance?

Answer 7

Mitochondrial

Question 8

What is this pattern of inheritance?

Answer 8

Y-linked

Question 9

MEN1 is autosomal dominant / recessive?

Answer 9

Dominant

Question 10

MEN1 is a TSG or proto-oncogene?

Answer 10

TSG

Question 11

MEN2 is associated with which malignant cancer type?

Answer 11

Chromaffin cancers

Question 12

McCune-Albright (cafe-au-lait, fibrous dysplasia) is associated with which gene mutation?

Answer 12

GNAS1 - cause sa constitutive cAMP signalling

Question 13

Von-Hippel Lindau can cause which type malignant cancer?

Answer 13

Renal cortex

Question 14

What’s the leading cause of death in MEN1?

Answer 14

Malignant pancreatic neuroendocrine tumour

Question 15

Which type of MEN1 is associated with pituitary adenoma?

Answer 15

MEN1

Question 16

Which MEN(s) are associated with phaeochromcytoma?

Answer 16

MEN2A and 2B

Question 17

Why is screening for MEN2 important?

Answer 17

Cause of thyroid cancer (at risk individuals can be given a thyroidectomy) & phaeochromocytoma