18 Gene mapping Flashcards

1
Q

Why gene map?

A

ID disorders, new Dx/Tx

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2
Q

What is linkage analysis?

A

Close genes linked = less likely separated, distance in centimorgan

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3
Q

How can numbers of crossovers determine what may occur to an allele?

A

Single crossovers may alternate all alleles before the crossover point but a double crossover may bring back the original allele if it is not involved in the region of crossover

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4
Q

How is centimorgan equate to recombination chance?

A

1 cM = 1% chance of recombination(alleles touching). 50 cM = 50% max chance of recombo (alleles at opposite ends)

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5
Q

When does chromosomes reorganize?

A

Meiosis

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6
Q

What is a linkage phase?

A

Description of where alleles are located in a pedigree

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7
Q

What is a LOD score?

A

Statistical result to calculate likelihood of two alleles are linked

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8
Q

What LOD score indicates linkage? What score for no linkage?

A

3 or higher is significant for linkage. -2 or below is no linkage

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9
Q

What are commonly used for markers in linkage phase?

A

Microsatellites are useful as they are polymorphic and located everywhere on genome. Can be followed if close enough to allele and unimproved even when likely

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10
Q

What is uninformative mating?

A

Markers that cannot determine linkage due to not enough polymorphisms

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11
Q

How does linkage relate with time?

A

Linked alleles/markers will initially stay together but eventually become unlinked

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12
Q

What is linkage disequilibrium?

A

Mutation with linked allele being inherited together

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13
Q

How is age determined for linked mutations?

A

Linked mutations estimated by time to equilibrium (close link = longer time)

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14
Q

What is genetic association?

A

Allele’s effect = increased risk of disorder

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15
Q

How does genetic association compare with linkage?

A

Association = specific allele found = increased risk but can be anywhere on chromosome

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16
Q

What is an example of genetic association?

A

HLA-B27 = 90x incr risk of ankylosing spondylitis

17
Q

What are genome wide association studies?

A

Technique used to screen many markers at once (usually SNPs)

18
Q

How can chromosome anomalies ID genes?

A

Common regions may indicate genes with specific breakpoints

19
Q

What are the two types of DNA libraries?

A

Genomic = all DNA from organism. cDNA all genes from a given tissue

20
Q

What are candidate genes?

A

DNA sequences possibly responsible for trait

21
Q

How are candidate genes IDed?

A

Positionally from sequenced region. Functionally from sequence with predicted function on a given chromosome. Candidate genes must fit both.

22
Q

How are candidate genes “elected”?

A

Normal+mutant sequences compared>expression in tissues>compare>express specific gene to find product and function