Lecture 4 - basic concepts pt3 Flashcards
What is ultrarapid metabolizer?
- Normal or increased activity
- An individual carrying two increased activity alleles or one functional allele + one increased activity allele
What is extensive metabolizer?
- Homozygous wild type or normal activity
- An individual carrying two functional alleles
What is intermediate metabolizer?
- Heterozygote or intermediate activity
- An individual carrying one functional allele + one loss of function allele or one loss of function allele + one increased activity allele
What is poor metabolizer?
- Homozygous variant, mutant, low, or deficient activity
- An individual carrying two loss of function alleles
What is the allele frequency for a population of N individuals?
- Q number of persons w T/T
- R number of persons w T/C
- S number of persons w C/C
What is the equation to calculate the number of T allele?
2Q + R
What is the equation to calculate the number of C allele?
2S + R
What is the equation to calculate the frequency of T allele?
(2Q + R)/2N
What is the equation to calculate the frequency of C allele?
(2S + R)/2N
Calculate the allele frequency of lecture example.
How to figure out minor allele frequency (MAF) if genotype frequency are known?
What is a common/major/reference allele?
Allele with higher frequency (>50%)
What is rare/minor/mutant allele?
Allele with lower frequency (<50%)
Can a rare allele in one population can be a common allele in another population?
Yes
What is a haplotype?
Group of genes within an organism that were inherited together from a single parent
What do haplotype also refer to?
Inheritance of a cluster of single nucleotide polymorphisms (SNPs), which are variations at single positions in DNA sequence among individuals
What is linkage disequilibrium (LD)?
Non random association of alleles at different loci on same chromosome
What is LD result when there are infinite recombination?
No LD
What is the LD result when there is no recombination?
Complete/perfect LD
What is the LD result when recombination occurs in a portion of chromosomes?
Incomplete LD
What is R^2?
How strong the correlation between two variables is
What is R^2 in the measurement of LD?
- R^2 = 0: no LD
- R^2 = 1: complete LD/perfect LD
- R^2 >= 0.8: strong LD
*0.8 is an empirical value
