Multi-gene diseases Flashcards
Describe some differences between monogenic and complex diseases [+]
What do you need to be aware of about the genetic forms of most diseases? [1]
There are monogenic forms of most common diseases, but these only account for a small proportion of cases
What are common ways to find genes causing complex disease? [3]
Genome wide scanning:
- Linkage analysis in families or relations
- Association testing in unrelated individuals (GWAS) - tests for asscociations for particular SNIPs - can then find regions across genome where can find genes in the region
- Whole exomes and genomes
Describe basic overview of a GWAS [2]
Get a patient and control sample of people - get genomes
Compare the frequency of genetic variations of single nucleotide polymorphisms (SNPs) in genome of people w/ & w/out disease
Do meta-analysis and look at odds ratios
In primary hypertension, what % is genetic?
Give 5 monogenic forms of hypertension [5]
Increased enrichment of
