Gene Hunting and Mapping

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Linkage mapping- determining the distance between & order of genes

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Genetic maps are measured in bp, physical maps in cM

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Linkage _ reflects gene proximity

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Genes on different chromosomes link dependently

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What are the two definitions of haplotype?

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What does this symbolise?

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Name two resons why large families are required for linkage studies in humans (for an accurate result)

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If 15% of meioses in a study show crossover, what is the recombination frequency?

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Loci with a recombination factor of 50% have the same chance of being separated as loci on different chromosomes

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Name the two steps required for functional mapping

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What is the 'Critical Region'

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A, B, C & D are all markers. B and C are found in homozygous form in people with autosomal recessive deafness. Where is the critical regions for genes causing this deafness?

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Assuming a person is heterozygous, what do we need to know once markers for the alleles have been identified?

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What is the difference between phase known and phase unknown?

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Fewer recombinants mean the hypothesis is more likely

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Assume 12% of people are recombinants - how many cM are the genes?

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Name 3 things that can affect the recombination process

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LOD - Log of the Odds Ratio

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When using LOD, what are the two hypothesis?

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Assuming 6 recombinants out of 10 children what is the equation for the statistical likelihood of 6 recombinents?

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The equation for NO linkage = [(1-θ)^no of children in study]

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A = Liklihood of linkage
B = Liklihood of no linkage

What is the LOD full equation?

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-2 is considered significant, 3 is considered no linkage

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It is thought that 4 of 13 children are recombinants- calculate the LOD and see if this is significant

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LOD scores are not additive

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Linkage analysis in complex disorders is much more difficult

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The first step of mapping complex disease genes is demonstrating how important the genes are on heritability

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How do you gain estimates of heritability in complex disorders?

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Why is linkage analysis so much more difficult with complex disorders?

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Non-parametric linkage analysis typically uses what?

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What is true of NPL?

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This image shows two siblings that are...?

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Year 2 Test sobre Gene Hunting and Mapping, creado por gina_evans0312 el 27/12/2013.

Gene Hunting and Mapping

Linkage mapping- determining the distance between & order of genes

Genetic maps are measured in bp, physical maps in cM

Linkage _ reflects gene proximity

Genes on different chromosomes link dependently

What are the two definitions of haplotype?

What does this symbolise?

Name two resons why large families are required for linkage studies in humans (for an accurate result)

If 15% of meioses in a study show crossover, what is the recombination frequency?

Loci with a recombination factor of 50% have the same chance of being separated as loci on different chromosomes

Name the two steps required for functional mapping

What is the 'Critical Region'

A, B, C & D are all markers. B and C are found in homozygous form in people with autosomal recessive deafness. Where is the critical regions for genes causing this deafness?

Assuming a person is heterozygous, what do we need to know once markers for the alleles have been identified?

What is the difference between phase known and phase unknown?

Fewer recombinants mean the hypothesis is more likely

Assume 12% of people are recombinants - how many cM are the genes?

Name 3 things that can affect the recombination process

LOD - Log of the Odds Ratio

When using LOD, what are the two hypothesis?

Assuming 6 recombinants out of 10 children what is the equation for the statistical likelihood of 6 recombinents?

A = Liklihood of linkage
B = Liklihood of no linkage

What is the LOD full equation?