Genetics Flashcards
Describe monogenic disorders?
- single gene aetiology
- 6 patterns of inheritance
Describe polygenic disorders?
- multiple genes
- environmental influences
What may be the result of single nucleotide variations (SNV)?
- Protein coding changes
- missense
- nonsense
- splice site
Indels stands for what?
- insertions and deletions
What tumours are associated with MEN1?
- Parathyroid
- pituitary
- pancreatic
What might be the first clinical sign of a MEN1 mutation?
- primary hyperparathyroidism
MEN mutations are autosomal ___
- dominant
MEN1 mutation is on what chromosome?
- 11q13
When should MEN1 be genetically tested for?
- 2 or more MEN1 associated tumours
- family history
What tumours are associated with MEN2 mutations?
- medullary thyroid cancer
- parathyroid
- phaeochromocytoma
Phaeochromocytoma affects what gland?
- adrenal gland
- excess noradrenaline and adrenaline
- malignant hypertension
How might MTC (medullary thyroid cancer) be diagnosed?
- Measure calcitonin
- USS FNA
- prophylactic thyroidectomy
Phaeochromocytoma is associated with what diagnostic result?
- elevated plasma metanephrine
MEN2 mutations are on what gene?
- RET proto-oncogene
Von-Hippel-Lindau has what associated conditions?
- phaeochromocytoma
- lung cysts
- retinal haemangiomas
Neurofibromatosis type 1 has what features?
- axillary freckling
- cafe-au lait patches
- neurofibromas
- risk of phaeochromocytoma
What mutation is seen in Neurofibromatosis type 1
- Nf1 gene
Gene mutation in carney complex?
- PRKAR1A
McCune-albright syndrome is what mutation?
- GNAS mutation
- post-zygotic
- excess hormone secretion
McCune-albright syndrome associated conditions?
- Cafe-au lait patches
- polyostotic fibrous dysplasia
Define mosaicism?
- proportion of cells affected and proportion not affected
Name a mosaic endocrine genetic condition?
- McCune albright syndrome
