week 7 Flashcards
What is SNP?
Single nucleotide polymorphisms (SNPs)
- SNPs arise by point mutation during DNA synthesis
What are INDELs
insertions and deletions.
What are CNVs
copy number variants:
- alleles in CNV differ in number of replicates
- some regions have 2 copies rather than 1
What are large structural variants?
when an INDEL is longer than 1000 bases it is considered large structural variants
What are the 2 methods of describing genetic variation?
- pi
- allele frequencies
How to measure diversity using pi
number of nucleotide differences between pairwise sequences / (no. go sequence comparisons x no. of sites)
How to measure diversity using allele frequencies?
number of A alleles / total number of alleles - hardy weignburgh
What are the expected genotype frequencies in the Hardy-Weinberg equilibrium model?
Homozygous AA: p²
Homozygous TT: q²
Heterozygous AT: 2pq
What are the assumptions of the model
Sexual, diploid, non-overlapping generations.
Random mating population.
What are the 3 modes of non-random mating?
assortative mating
disassortative mating
inbreeding
What is assortative mating vs disassortative mating
- more homozygous individuals
- more heterozygous individuals
What does inbreeding lead to?
more homozygous individuals, leads to more genetic diseases
What is the equation to find inbreeding coefficient?
1 - (Hoberved/2pq)
Hobserveed = observed frequency of heterozygotes
2pq = expected frequency of heterozygote
What does smaller populations lead to?
- more genetic drift
- lead to fixation (loss of alleles )
- divergence between populations
What are the 3 types of selection and explain each
- directional selection
- disruptive selection
- stabilising selection