Polygenic Disorders Flashcards
1
Q
What is liability?
A
All contributing factors to a disease
2
Q
What is heritability?
A
Proportion of risk attributed to genetic factors
3
Q
What are the problems with genetic analysis in polygenic disorders?
A
- Poor genotype/phenotype correlation as several suspectibel genes contribute
- Not all suspectible people are affected
4
Q
What methods are used to identify genes involved in polygenic disorders?
A
- Candidate gene
- Linkage analysis
- Association studies
5
Q
What are the issues of GWAS in polygenic disorders?
A
- SNP hits over multiple genes
- High linkage disequilibirum between variants
- Variable levels of regulatory activity
6
Q
Give examples of Polygenic disorders
A
- Schizophrenia
- Type 1 diabetes
- Cardiovascular disease (lots of examples)
7
Q
How were type 1 diabetes genes identified?
A
- Via non-parametric allele sharing
- Animal models
- GWAS
8
Q
What genes are most important in type 1 diabetes susceptibility?
A
HLA cluster
9
Q
What genes are important to Alzheimer’s development?
A
APP
10
Q
What is QTL?
A
Quantative trait locus analysis
11
Q
What causes mosaics?
A
Non-disjunction in embryogenesis
