Polygenic Disease and MHC Flashcards
1
Q
Define polygenic disease
A
A disease influenced by the combined actions of 2 or more genes
2
Q
Genetic association with CHD
A
Monogenic: Familial hypercholesterolaemia
- LDL receptor mutations
- Familial defective ApoB-100
- LDL receptor adaptor protein 1
Polymorphisms
- ApoA-I gene
3
Q
Examples of polygenic diseases
A
- Epilepsy
- Hypertension
- Manic depressive psychosis
- Schizophrenia
- SLE
- MS
4
Q
Genetic association in Ankylosing spodylitis
A
- HLA B27+
- Present in 90% of cases
5
Q
Genetic association in Rheumatoid arthritis
A
HLA DR4 in 40% (DRB01*04)
Smoking is envirnmental risk
6
Q
How is HLA expresed on cells
A
Co-dominantly expressed on cell surface
7
Q
Genetic influences in T1DM
A
- HLA DR3/4 are highly significant
- 25 fold relative risk
- DR2 is protective
8
Q
JUST read lecture
A
9
Q
A
