Genetics

Question 1

What is a monogenetic disorder and what are they commonly caused by?

Answer 1

Disease caused by a single gene and is passed on through families
SNVs or small insertions/deletions

Question 2

What are the 6 patterns of monogenetic disease?

Answer 2

AD
AR
X-L D
X-L R
Y-L
Mitochondrial

Question 3

How are monogenetic diseases evaluated?

Answer 3

Linkage studies

Question 4

What are polygenetic disorders and what are they commonly influenced by?

Answer 4

Disease caused by multiple genes

Environmental factors

Question 5

How are polygenetic disorders evaluated?

Answer 5

GWAS studies

Question 6

What does the MEN1 gene do?

Answer 6

Code for tumour suppressor menin

Question 7

What mutation and inheritance is MEN1?

Answer 7

MEN1 gene (13th gene on chromosome 11)
AD

Question 8

Name 4 effects of MEN1?

Answer 8

Parathyroid hyperplasia
Pancreatic tumour
Pituitary adenoma
Angiofibroma

Question 9

Name 2 pancreatic tumours?

Answer 9

Insulinoma

Gastrinoma

Question 10

What is the diagnosis criteria for MEN1?

Answer 10

2 or more of:
MEN1 tumour
Hypercalcemia 
\+ve imaging
No genetic testing

Question 11

Treatment for parathyroid hyperplasia and tumours?

Answer 11

Surgery

Question 12

Drug treatment for insulinoma + gastrinoma?

Answer 12

Insulinoma = diazoxide
Gastrinoma = PPI

Question 13

How many people die from MEN1?

Answer 13

50% of patients

Question 14

What is a DD of MEN1 and what 3 things does it present with?

Answer 14

Zollinger-Ellison syndrome
Gastrinoma
Peptic ulcers
Diarrhoea

Question 15

What does the RET gene do?

Answer 15

Activates tyrosine kinase receptors

Question 16

What is the mutations and inheritance of MEN2?

Answer 16

RET gene on chromosome 10

AD

Question 17

Is MEN2A or MEN2B more common?

Answer 17

MEN2A

Question 18

What is the triad of MEN2A?

Answer 18

Medullary thyroid cancer
Bilateral phaeochromocytoma
Parathyroid hyperplasia

Question 19

What is the triad of MEN2B?

Answer 19

Medullary thyroid cancer
Bilateral phaeochromocytoma
Marfanoid features

Question 20

Name 3 other features of MEN2B.

Answer 20

Mucosal neuromas
Intestinal ganglion dysfunction
Medullated corneal fibres

Question 21

What is the treatment for MEN2?

Answer 21

Thyroidectomy

Surgery to remove other tumours

Question 22

What does the VHL mutation cause?

Answer 22

Excess HIF proteins which cause vascular cell proliferation

Question 23

Name the triad of VHL syndrome.

Answer 23

Phaeochromoctyoma
Vascular tumours
Pancreatic tumours

Question 24

Name 5 signs of NF type 1.

Answer 24

Axillary freckling
Cafe au lait patches
Neurofibromas
Optic gliomas
Scoliosis

Question 25

What is the mutation of Carney Complex + effect?

Answer 25

PRKAR1A gene

Excess PKA signalling

Question 26

Name 4 signs of Carney Complex.

Answer 26

Pigment disorders
Endocrine tumours
Myxomas
Schwannomas

Question 27

What does primary pigmented nodular adrenocortical disease (PPNAD) cause?

Answer 27

Cushing’s

Question 28

What is the mutation of McCune-Albright + effect?

Answer 28

GNAS gene

Excess adenyl cyclase signalling

Question 29

Name 4 signs of McCune-Albright syndrome?

Answer 29

Endocrine tumours
Polycystic fibrous dysplasia
Cafe au lait pactes
Precocious puberty