Complex Diseases and Pharmacogenetics Flashcards
What are the two different types of genetic diseases?
mendelian or complex
What is a mendelian disease?
A condition with clear mendelian inheritance patterns, caused by a single gene
What is a complex disease?
A disease controlled by multiple genes, and and the environment e.g CVD
Can a disease explicitly be Mendelian or complex?
It is difficult to say if a disease is one or the other. E.g SCD is caused by point mutation in B-globin chain of haemoglogin. However condition is exacerbated by environmental factors.
What is an SNP?
A single nucleotide polymorphism - DNA sequence variations that occur when a single nucleotide is changed
where do SNPs occur?
in coding or non-coding regions
What is the most common type of variation in a genome?
SNPs
What is meant by heritability?
It is an estimation of the genetic contribution to a disease
what are the causes of phenotypic differences?
- genetic differences
- shared environment
- Unique environment
What are the two ways to measure heritability?
Twin Studies and Genome Wide Association studies
What are Genome Wide Association Studies?
Where you study the genomes of different people and look for an association between specific genetic variations and the different diseases that the people in the study have
What are the downsides of GWAS?
You need a very large sample size
Mass testing is required which needs money and qualified people
When are SNP’s said to be associated with certain conditions?
When SNPs are found to be more frequent in people with a disease compared to people without the disease
What specifically is GWAS lookin for?
Shared SNPs
what is whole genome sequencing (WGS)?
entire genome scrutinised - every SNP can be identified