Cardio 6 Flashcards
What does genetics offer?
Risk prevention, better prevention, non-treatment and personalised treatment
What are the contemporary genetic strategies?
Genome wide mapping
Fine mapping
Identification of functional candidate alleles
Testing of candidate alleys in living systems
Contribution by candidate alleys to phenotype variation
How many nucleotides and genes in the human genome?
2.85 billion nucleotides, 20-25000 genes
What is genome variation?
Changes in protein function or RNA expression
What is LD?
Linkage disequilibrium - correlation between nearby alleles on the same chromosome (co-inheritance)
How many SNPs per genome?
15 million - 11%
How many SNPs per gene and where are they?
12 per gene, 6 in coding region and 3 alter protein sequence and 6 in the perigenetic regions that may cause changes in gene expression of splicing
What is a linkage analysis?
Comparison of genetics between family members
What is association analysis?
Compare cases vs. control or high vs. low
What is transcriptomics?
Involves gene expression and non-coding RNA expression
What is computational biology?
Recognising patterns in sequence and expression data. Includes DNA methylation (epigenetics) and protein expression.
What is systems biology?
Put the computational biology in a physiological context – add in phenotypes
How much do people differ in terms of their genome?
Differ 1 in 1000 bp between two people (3 million differences)
What is epistasis?
Gene-gene interaction
