population genetics pt.2 Flashcards
main steps to quantify population genetics
- genotype samples
- calculate genotype freqs
- calculate expected genotype freqs
- H0, He Ht
- F-statistics - FIS, FIT, FST
what is heterozygosity
gene diversity
- Heterozygosity is at the centre of population genetics- both mathematically & important to living organisms in general
- Gets much more complicated outside of diploid organisms
how does heterozygosity relate to cancer
- Heterozygosity of cell lines
- Loss of heterozygosity (LOH) is a common in cancer development - can result in inactivation of tumor suppressor genes or the activation of oncogenes
- BRCA1 and BRCA2 genes show reduced heterozygosity in breast cancer tumours
- Many diseases associated with increased homozygosity - recessive alleles
who developed F-statistics and what are they
- Sewell- Wright (1951)
- Associated with levels of inbreeding
The F- statistics: FIS FIT FST
what is the FIS F-statistics
FIS = (Hs – Hi)/ H
- FIS = inbreeding coefficient (also designated F)
- In diploid species = probability that an individual has two alleles at a particular locus that recently descended from a single common ancestor
- FIS value ranges from 0 (no inbreeding) to 1 (full inbreeding)
what is the FIT F-statistics
FIT = (Ht – Hi)/ Ht
- FIT = overall inbreeding coefficient
- compares the heterozygosity of an individual to that of the total population under consideration
- influenced by FIS and FST
what is the FST F-statistics
FST = (Ht – Hs)/ H
- FST = probability that two random gametes (or genes), drawn from the same subpopulation, will be identical by descent, relative to gametes taken from the entire population
- AKA measure of genetic differentiation between two separate populations due to genetic drift
- Most common measurement used to describe genetic differentiation of population
- Scale of 0 (complete panmixia) to 1 (complete genetic differentiation in different subpopulations)
- Often (although not always) correctly inferred as surrogate for level between 2 species
what guidelines did Wright suggest for interpreting FST values
- 0-0.05: little genetic differentiation (note, if FST is not zero, there is still non-negligible differentiation)
- 0.05-0.15: moderate genetic differentiation
- 0.15-0.25: great genetic differentiation
- > 0.25: very great genetic differentiation
**This assumes markers are in HWE
what is HI, Hs and Ht in the F-statistic equations
- HI = the average observed heterozygosity across subpopulations
- Hs = the average expected heterozygosity across subpopulations
- Ht = the expected heterozygosity of the total population
what is I, S and T in the F-statistics
- I = individual
- S = subpopulation
- T = total population
>FIT = individual + Total population
>FST = subpopulation + total population
>FIS = individual + subpopulation
reasons Many species avoid inbreeding
- Increase in the frequency of recessive harmful allele
- Increase of homozygosity when heterozygotes have advantage
reasons inbreeding isn’t always bad
- Not all individuals have a mate choice - rare / endangered species
- Sometimes if a species has a high enough genetic diversity - not a huge deal
- Sometimes helpful to keep beneficial traits e.g. Seagrass - huge colonies (clone themselves) - already perfectly adapted
- Hymenoptera males only one copy of chromosomes - quickly remove harmful alleles
- Investment in offspring