Module 11 Genetic Variation Flashcards
Branch of biology concerned with heredity and variation
Genetics
branch of genetics which deals with the behavior of genes in population and studies polymorphism and divergence.
Population Genetics
genetic heterogeneity in a population
enables the species to adapt to future novel changes in the environment
raw material for evolution
Genetic Variation
How is genetic variation measured?
*univariate and multivariate statistics
*use of isozymes
*use of other genetic markers such as RAPDs, RFLP, AFLP, minisatellites, microsatellites, SNPs, CNVs, DNA sequences of mtDNA and nuclear markers
functionally similar but separable forms of enzymes encoded by one or more loci
Isozymes
When doing isozyme analysis, you observe three banding patterns. The first has one band at the bottom, the second has one band at the top, the third has one band at the top and one at the bottom. What does this mean?
There are fast and slow alleles. The smaller or “fast” allele is at the bottom, the larger or “slow” allele is at the top. The presence of both mean it is heterozygous. Since there is no intermediate bands between the two, it is monomeric. (See slide 11 of lecture 11)
When doing isozyme analysis, you observe three banding patterns. The first has one band at the bottom, the second has one band at the top, the third has one band at the top, one at the bottom with both being barely distinct, and a band or multiple bands between the top and bottom. What does this mean?
The enzyme is dimeric. The top is the slow allele, the bottom is the fast allele, the in between bands are the heterozygote mixes.
This is the % of loci or nucleotide positions showing more than one allele or base pair
Polymorphism
This is the % of individuals that are heterozygotes
Heterozygosity (H)
This is the measure of # and diversity of different alleles or haplotypes within a population
Allele/Haplotype Diversity
This is the measure of number and diversity of variable nucleotide positions within sequences of a population
Nucleotide Diversity
This is the measure of number of base pairs between two homologous sequences
Genetic Distance
This is the % of nucleotide substitutions that result in amino acid replacement
Nonsynonymous substitutions
This is the % of nucleotide substitutions that don’t result in amino acid replacement
Synonymous substitutions
How do you calculate intrapopulation nucleotide diversity?
πx = (n/(n-1)) * ∑(XiXjπij)
Where:
n = sample size
πx = the average weighted sequence divergence between haplotypes
Xi = is the rel. freq. of seq i
Xj = is the rel. freq. of seq. j
πij = count of differences between sequences i and j (i can have an A in the same position where j has a G, etc.)