Lecture 9/28 - E2 Flashcards

1
Q

What does allelic phase mean?

A

Knowing which specific alleles are next to one another on the same chromosome

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2
Q

What is a LOD score used for?

A

To test the likelihood that two loci are linked vs the likelihood that they are unlinked.

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3
Q

How is a LOD score calculated?

A

LOD = log (likelihood if linked) / (likelihood if unlinked)

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4
Q

How do you interpret the LOD score?

A

The greater the LOD score, the more likely the genes are linked

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5
Q

A LOD score of 3+ is considered…

A

In favor of linkage

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6
Q

LOD scores of less than -2 are considered…

A

In favor of unlinkage

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7
Q

LOD scores between -2 and +3 are considered…

A

Inconclusive

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8
Q

How do you relate the Z max value and Theta max value when given a table of the LOD scores at different recombination values?

A

First, find the largest number which should be close to Zmax.
Then, look at Theta max to find the distance.
Example 0.13 Theta = 13 map units away

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9
Q

What is a haplotype?

A

The full arangement of alleles on each homolog is called the individuals haplotype

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10
Q

What is linkage equilibrium?

A

The likelihood of a particular haplotype is the product of the individual allele frequencies in the population.

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11
Q

For instance, for genes A and B, let’s say that there are two A alleles, A1 and A2, where A1 is found inthe population at 20% and A2 is found at 80%. B1 is found at 30% and B2 is found at 70%. Under the conditions of linkage equilibrium, the likelihood of finding specific haplotypes are:

A
A1B1 = 0.2 x 0.3 = 0.06
A1B2 = 0.2 x 0.7 = 0.14
A2B1 = 0.8 x 0.3 = 0.24
A2B2 = 0.8 x 0.7 = 0.56
All total to 1.00
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12
Q

When halplotype frequencies deviate significantly from what is expected (product of each occurance), this is called…

A

Linkage Disequilibrium

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13
Q

When does linkage disequilibrium occur?

A

Usually when the genes in question are physically very close together (tightly linked)

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14
Q

What are Single Nucleotide Polymorphisms (SNPs) and what are some of their characteristics?

A

Base pair differences in the same gene
They are present in everyon’e DNA
Some can play a causative role in disease by affecting the gene’s function
They are mainly used at DNA landmarks helping scietists located genes related to genetic disorders

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