Genetics Flashcards
What is a monogenetic disorder and what are they commonly caused by?
Disease caused by a single gene and is passed on through families
SNVs or small insertions/deletions
What are the 6 patterns of monogenetic disease?
AD AR X-L D X-L R Y-L Mitochondrial
How are monogenetic diseases evaluated?
Linkage studies
What are polygenetic disorders and what are they commonly influenced by?
Disease caused by multiple genes
Environmental factors
How are polygenetic disorders evaluated?
GWAS studies
What does the MEN1 gene do?
Code for tumour suppressor menin
What mutation and inheritance is MEN1?
MEN1 gene (13th gene on chromosome 11) AD
Name 4 effects of MEN1?
Parathyroid hyperplasia
Pancreatic tumour
Pituitary adenoma
Angiofibroma
Name 2 pancreatic tumours?
Insulinoma
Gastrinoma
What is the diagnosis criteria for MEN1?
2 or more of: MEN1 tumour Hypercalcemia \+ve imaging No genetic testing
Treatment for parathyroid hyperplasia and tumours?
Surgery
Drug treatment for insulinoma + gastrinoma?
Insulinoma = diazoxide Gastrinoma = PPI
How many people die from MEN1?
50% of patients
What is a DD of MEN1 and what 3 things does it present with?
Zollinger-Ellison syndrome
Gastrinoma
Peptic ulcers
Diarrhoea
What does the RET gene do?
Activates tyrosine kinase receptors
What is the mutations and inheritance of MEN2?
RET gene on chromosome 10
AD
Is MEN2A or MEN2B more common?
MEN2A
What is the triad of MEN2A?
Medullary thyroid cancer
Bilateral phaeochromocytoma
Parathyroid hyperplasia
What is the triad of MEN2B?
Medullary thyroid cancer
Bilateral phaeochromocytoma
Marfanoid features
Name 3 other features of MEN2B.
Mucosal neuromas
Intestinal ganglion dysfunction
Medullated corneal fibres
What is the treatment for MEN2?
Thyroidectomy
Surgery to remove other tumours
What does the VHL mutation cause?
Excess HIF proteins which cause vascular cell proliferation
Name the triad of VHL syndrome.
Phaeochromoctyoma
Vascular tumours
Pancreatic tumours
Name 5 signs of NF type 1.
Axillary freckling Cafe au lait patches Neurofibromas Optic gliomas Scoliosis
What is the mutation of Carney Complex + effect?
PRKAR1A gene
Excess PKA signalling
Name 4 signs of Carney Complex.
Pigment disorders
Endocrine tumours
Myxomas
Schwannomas
What does primary pigmented nodular adrenocortical disease (PPNAD) cause?
Cushing’s
What is the mutation of McCune-Albright + effect?
GNAS gene
Excess adenyl cyclase signalling
Name 4 signs of McCune-Albright syndrome?
Endocrine tumours
Polycystic fibrous dysplasia
Cafe au lait pactes
Precocious puberty
