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31 Cards in this Set
- Front
- Back
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Coefficient of Inbreeding, F
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Probability a person homozygous at a locus inherited both alleles from same parent OR
Proportion of loci at which a person is homozygous by descent. |
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Coefficient of relationship, R
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For any allele father passes to child, liklihood the mother inherited same allele from common ancestor
1/2 raised to the power of (how many degrees of relationship from each other) |
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Proportion of genes do first cousins share?
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1/8
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Fitness, f
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Probability of transmitting one's genes to next generation, compared to average probability for the population.
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What is coefficient of selection
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s=1-f
a measure of the loss of fitness |
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Co-efficient of in-breeding for siblings
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1/4,
siblings share 1/2 genes, F=1/2*genes in common |
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Co-efficient of in-breeding for parent/child
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1/4
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Co-efficient of in-breeding for half-siblings
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1/8
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Co-efficient of in-breeding for Uncle/Niece
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1/8
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Co-efficient of in-breeding for first cousins
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1/16
(first cousins share 1/8 of their genes) |
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Co-efficient of in-breeding for first cousins once removed
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1/32
(first cousins once removed share 1/16 of their genes) |
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Co-efficient of in-breeding for second cousins
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1/64
(second cousins share 1/32 of their genes) |
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Incidence of disease gene in autosomal dominant traits
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1/2 frequency of the trait
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Incidence of disease gene for autosomal recessive traits
carrier frequency? |
the square root of the incidence of the trait, "q" squared.
carrier frequency is 2q(1-q) or 2q for very rare disorders) |
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For x-linked traits
Carrier frequency Frequency disease in males Affected females |
female carrier 2pq
incidence of disease in males, q affected females, q squared |
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Haldane's rule
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p2 + 2pq + q= 1
p+q=1 |
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Hardy Weinberg Law
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p2+2pq+q2=1
p+q=1 |
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How to calculate allele frequency?
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frequency of heterozygotes plus homozygotes
divided by total number of alleles (2xpeople...) |
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Incidence of autosomal dominant disease when you know allele frequencies?
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2pq
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For autosomal dominant disorders, what is the frequency of the mutant gene (with respect to incidence of disease)?
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for autosomal dominant disorders the frequency of the mutant gene is equal to 1/2 the frequency of the disease/trait
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For very rare autosomal recessive diseases, <1/10,000, what is carrier frequency (formula)?
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Frequency of normal allele is very close to 1, so...
Carrier frequency =2q |
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AR Disorders
Sibling of a carrier's chance to be carrier |
1/2
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New mutation rate for AD conditions
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Number of Affected infants to Normal parents divided by the total number of alleles (2x#people)
OR allele frequency times selection (selection = 1- fitness) |
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Complex Trait Definitions
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Any trait for which we do not understand all the genetic and environmental factors involved.
May be Continuous/Quantitative traits (blood pressure, weight) OR Qualitative trait (hypertension) |
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In families with proband with more severe disease, will familial recurrence risk by higher or lower
(for complex traits/disorders) |
Higher
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What is a phenocopy
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You have the "normal" gene at a particular locus but still have the disease
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Define Heritability
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a measure of the genetic variance as a proportion of the total phenotypic variance in a population.
(population specific!!) |
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Heritability formula
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Concordance of MZ twin studies minus DZ twin studies times 2
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Chance to be a carrier if your sibling is a carrier of autosomal recessive disease
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2/3, if you are not affected
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X-linked lethal disease
Chance mother of affected with no family history is a carrier |
2/3
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X-linked lethal disease
Chance grandmother of affected with no family history is a carrier |
1/3
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