Lecture 9/28 - E2 Flashcards
What does allelic phase mean?
Knowing which specific alleles are next to one another on the same chromosome
What is a LOD score used for?
To test the likelihood that two loci are linked vs the likelihood that they are unlinked.
How is a LOD score calculated?
LOD = log (likelihood if linked) / (likelihood if unlinked)
How do you interpret the LOD score?
The greater the LOD score, the more likely the genes are linked
A LOD score of 3+ is considered…
In favor of linkage
LOD scores of less than -2 are considered…
In favor of unlinkage
LOD scores between -2 and +3 are considered…
Inconclusive
How do you relate the Z max value and Theta max value when given a table of the LOD scores at different recombination values?
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
What is a haplotype?
The full arangement of alleles on each homolog is called the individuals haplotype
What is linkage equilibrium?
The likelihood of a particular haplotype is the product of the individual allele frequencies in the population.
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:
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
When halplotype frequencies deviate significantly from what is expected (product of each occurance), this is called…
Linkage Disequilibrium
When does linkage disequilibrium occur?
Usually when the genes in question are physically very close together (tightly linked)
What are Single Nucleotide Polymorphisms (SNPs) and what are some of their characteristics?
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