🧬 Population Genetics 🧬 Flashcards
Alleles
Different versions of a gene that usually arise from mutations and are responsible for hereditary variation
Heterozygote
An individual with two different alleles for a specific gene at a particular locus
Autosomal Recessive Disorders
Genotype frequencies for homozygous normal, heterozygotes, and homozygous affected individuals can be calculated using p2 + 2pq + q2 = 1.
X-linked Disorders
In X-linked disorders, males are hemizygous for X-linked genes and genotype frequencies can be determined by applying the Hardy-Weinberg equation.
Polymorphism
The existence of multiple forms of a gene (alleles) within a population, typically at a frequency of more than 1%
Heterozygote advantage
A situation where individuals with two different alleles for a gene have a higher fitness than those with either homozygous genotype
Autosomal Dominant Disorders
For autosomal dominant disorders, genotype frequencies for homozygous normal, heterozygotes, and homozygous affected individuals can be calculated using p2 + 2pq + q2 = 1.
Genetic drift
The random change in the frequency of alleles in a population over generations due to chance events
Hardy-Weinberg equilibrium
A principle stating that in a large, stable population where mating is random, allele frequencies remain constant between generations if no other evolutionary factors are at play
Homozygote
An individual with two identical alleles for a specific gene at a particular locus
Hardy-Weinberg Equation
An equation used to calculate genotype frequencies from allele frequencies in a population in genetic equilibrium.
Founder effect
When a small group of individuals establishes a new population, leading to a loss of genetic variation
Pathogenic mutations
Mutations that cause genetic disorders or diseases, typically rare and present in less than 1% of the population
Incidence
The number of individuals in a specific population who develop a particular disease over a specified period of time
