Genetics Flashcards
1
Q
Describe monogenic disorders?
A
- single gene aetiology
- 6 patterns of inheritance
2
Q
Describe polygenic disorders?
A
- multiple genes
- environmental influences
3
Q
What may be the result of single nucleotide variations (SNV)?
A
- Protein coding changes
- missense
- nonsense
- splice site
4
Q
Indels stands for what?
A
- insertions and deletions
5
Q
What tumours are associated with MEN1?
A
- Parathyroid
- pituitary
- pancreatic
6
Q
What might be the first clinical sign of a MEN1 mutation?
A
- primary hyperparathyroidism
7
Q
MEN mutations are autosomal ___
A
- dominant
8
Q
MEN1 mutation is on what chromosome?
A
- 11q13
9
Q
When should MEN1 be genetically tested for?
A
- 2 or more MEN1 associated tumours
- family history
10
Q
What tumours are associated with MEN2 mutations?
A
- medullary thyroid cancer
- parathyroid
- phaeochromocytoma
11
Q
Phaeochromocytoma affects what gland?
A
- adrenal gland
- excess noradrenaline and adrenaline
- malignant hypertension
12
Q
How might MTC (medullary thyroid cancer) be diagnosed?
A
- Measure calcitonin
- USS FNA
- prophylactic thyroidectomy
13
Q
Phaeochromocytoma is associated with what diagnostic result?
A
- elevated plasma metanephrine
14
Q
MEN2 mutations are on what gene?
A
- RET proto-oncogene
15
Q
Von-Hippel-Lindau has what associated conditions?
A
- phaeochromocytoma
- lung cysts
- retinal haemangiomas
