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Genomics > Lecture 6 - Association And Linkage > Flashcards

Lecture 6 - Association And Linkage Flashcards

1
Q

Population Definition

A

Localized group of interbreeding individuals which produce fertile offspring

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2
Q

Gene Pool Definition

A

Collection of alleles in a population

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3
Q

Allele Frequency Definition

A

How common an allele is in the population

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4
Q

Two types of Gene Mapping

A

Linkage Analysis
Association Analysis

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5
Q

Linkage Analysis Definition

A

Use of inheritance of markers within families to identify chromosomal regions where disease genes may lie

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6
Q

DSL Defintion

A

Disease Susceptibility Locus
Identifiable region on chromosome that are inherited with an illness

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7
Q

Pedigree Definition

A

Map of inheritance in a family

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8
Q

Law of Dominance and Uniformity Definition

A

Variant Alleles of a particular gene found in the same location; are dominant over the other alleles

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9
Q

Law of Segregation Definition

A

Only one of two alleles is present in a gamete
Allows for random gene allocation

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10
Q

Law of Independent Assortment Definition

A

Alleles of 2 or more genes are sorted into gametes independently.

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11
Q

Where is Linkage Analysis used?

A

Rare alleles causing Mendelian Disease

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12
Q

Mapping Unit Definition

A

Measure of Distance used in Gene Mapping
1 MU = 1% chance of recombination

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13
Q

Recombination Fraction Equation

A

Recombinants/Total Offspring x 100

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14
Q

Recombination Fraction Definition

A

Percentage of times a recombination occurs between two loci
Non Linear function of physical distance separating loci on chromosome

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15
Q

Recombinant Definition

A

Crossing over of alleles

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16
Q

Lod Score Definition

A

Log10 of ratio between linkage and no linkage

17
Q

Phenocopy Definition

A

Environmentally induced phenotype that is different to genetic phenotype

18
Q

Haplotype Definition

A

Group of alleles that are inherited as a block

19
Q

Haplotype detection power

A

Haplotypes better at detecting disease related genome regions that genotypes

20
Q

Association Analysis Definition

A

Detects association between genetic variants and disease by exploiting linkage disequilibrium

21
Q

Linkage Disequilibrium

A

The phenomenon where 2 markers are co-inherited

22
Q

Allelic Association Definition

A

Expression of different alleles in a population

23
Q

GWAS Definition

A

Genome Wide Association Studies

Genomics (9 decks)

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