Lecture 4 - basic concepts pt3 Flashcards

1
Q

What is ultrarapid metabolizer?

A
  • Normal or increased activity
  • An individual carrying two increased activity alleles or one functional allele + one increased activity allele
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2
Q

What is extensive metabolizer?

A
  • Homozygous wild type or normal activity
  • An individual carrying two functional alleles
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3
Q

What is intermediate metabolizer?

A
  • 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
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4
Q

What is poor metabolizer?

A
  • Homozygous variant, mutant, low, or deficient activity
  • An individual carrying two loss of function alleles
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5
Q

What is the allele frequency for a population of N individuals?

A
  • Q number of persons w T/T
  • R number of persons w T/C
  • S number of persons w C/C
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6
Q

What is the equation to calculate the number of T allele?

A

2Q + R

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7
Q

What is the equation to calculate the number of C allele?

A

2S + R

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8
Q

What is the equation to calculate the frequency of T allele?

A

(2Q + R)/2N

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9
Q

What is the equation to calculate the frequency of C allele?

A

(2S + R)/2N

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10
Q

Calculate the allele frequency of lecture example.

A
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11
Q

How to figure out minor allele frequency (MAF) if genotype frequency are known?

A
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12
Q

What is a common/major/reference allele?

A

Allele with higher frequency (>50%)

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13
Q

What is rare/minor/mutant allele?

A

Allele with lower frequency (<50%)

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14
Q

Can a rare allele in one population can be a common allele in another population?

A

Yes

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15
Q

What is a haplotype?

A

Group of genes within an organism that were inherited together from a single parent

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16
Q

What do haplotype also refer to?

A

Inheritance of a cluster of single nucleotide polymorphisms (SNPs), which are variations at single positions in DNA sequence among individuals

17
Q

What is linkage disequilibrium (LD)?

A

Non random association of alleles at different loci on same chromosome

18
Q

What is LD result when there are infinite recombination?

A

No LD

19
Q

What is the LD result when there is no recombination?

A

Complete/perfect LD

20
Q

What is the LD result when recombination occurs in a portion of chromosomes?

A

Incomplete LD

21
Q

What is R^2?

A

How strong the correlation between two variables is

22
Q

What is R^2 in the measurement of LD?

A
  • R^2 = 0: no LD
  • R^2 = 1: complete LD/perfect LD
  • R^2 >= 0.8: strong LD
    *0.8 is an empirical value