Population Genetics and Mendelian Disorders

These flashcards cover key concepts, definitions, and phenomena related to population genetics and Mendelian disorders.

Random Mating

The selection of a mate without regard to genotype.

Hardy-Weinberg Equilibrium

A mathematical relationship for calculating genotype frequency from allele frequency.

p²+2pq+q²=1 

p² is the frequency of the homozygous dominant genotype (AA)

2pq is the frequency of the heterozygous genotype (Aa)

q² is the frequency of the homozygous recessive genotype (aa)

Autosomal Recessive Trait

A trait determined by a nuclear gene, manifested in the homozygote but NOT in the heterozygote.

Autosomal Dominant Trait

A trait determined by a nuclear gene, manifested in the heterozygote.

Gene Pool

The total collection of genes in a population at any one time.

Founder Effect

A reduction in genetic diversity that occurs when a population is established by a small number of individuals.

Bottleneck Effect

A sharp reduction in the size of a population due to environmental events or human activities that can lead to genetic drift.

Heterozygote Advantage

The situation where individuals with heterozygous genotypes have a survival advantage over homozygous individuals.

Allele Frequency

How often an allele appears in a population compared to other alleles for the same gene.

Genotype Frequency

The proportion of each genotype among individuals in a population.