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*Population Genetics - Coggle Diagram
*Population Genetics
Hardy-Weinberg equilibrium
in a large population, allele frequencies at a locus should not change over generations unless:
non-random mating
consanguinity
genotypes that affect biological fitness
new mutation
migration and founder effect
Nomenclature
Alleles:
normal/major/consensus allele frequency (p)
mutant/minor allele frequency (q)
p + q = 1
multiple alleles: p + q + r + s... = 1
Genotypes:
homozygotes : p2, q2
heterozygote: 2pq (“carrier” in recessive)
p2 + 2pq + q2 = 1
X-linked is different
Females: p^2 + 2pq + q^2 = 1
Males: p + q = 1
Pathologies
*Tay-Sachs Disease
lysosomal storage disorder
Cherry red spot in the eye
loss of motor skill, hypotonia, seizures, death in early childhood
*Genome Wide Association Studies slide
*SNPs have reference numbers (RS)
Whole Genome sequencing will be the future of identifying these disorders vs. GWAS
