L4 Basic Concepts III Flashcards
What does having two *1 alleles indicate?
Extensive metabolizer
normal
What does having one allele of *17 indicate?
ultra-rapid metabolizer
What is the nomenclature for intermediate metabolizer?
- carrying one *1 (functional) plus one 2-8 (loss of function)
- carrying one 2-8 plus one *17 (increased activity)
What is the nomenclature for a poor metabolizer?
An individual carrying two 2-8 (loss of function) alleles
Do allele frequencies vary between populations?
Yes – a rare allele in one population can be a common allele in another population
What is a haplotype?
- A haplotype is a group of genes within an organism that were inherited together from a single parent
- Also refer to the inheritance of a cluster of single nucleotide polymorphisms (SNPs)
What is linkage disequilibrium (LD)?
- Non-random association of alleles at different loci on the same chromosome
When there are infinite recombination, does LD occur?
linkage disequilibrium
No LD
When there is no recombination what LD occurs?
complete/perfect
When recombination occurs in a portion of chromosomes, what LD occurs?
incomplete LD
What does R^2 indicate?
How strong the correlation between two variables is
between 0 and 1
What does R^2 = 0 indicate for LD?
no LD
What does R^2 = 1 indicate for LD?
complete LD/perfect LD
What does R^2 > 0.8 indicate for LD?
strong LD
