Chapter 7: Genetic Disorders and Human Health

A set of flashcards that define key terms related to genetic disorders and human health based on the provided lecture notes.

Mutation-selection balance

The balance between the rate of mutation and the strength of purifying selection that determines the frequency of genetic disease allele classes.

Dominance/recessivity

A genetic principle explaining why alleles causing recessive disorders are at higher frequencies than dominant alleles.

Genetic drift

A mechanism which causes variation among local populations in the frequency of genetic diseases.

Over-dominant selection

A form of selection where heterozygote genotypes have higher fitness than either homozygous genotype.

Autosomal dominant disorders

Genetic disorders that manifest in individuals with just one copy of the disease allele.

Autosomal recessive disorders

Genetic disorders that only manifest in individuals who are homozygous for the disease allele.

Inbreeding

The mating of individuals closely related which can increase the likelihood of recessive genetic disorders.

Familial hypercholesterolemia

An autosomal dominant disorder leading to elevated cholesterol and increased heart attack risk.

Cystic fibrosis

An autosomal recessive disorder that affects the lungs and digestive system, commonly found in carriers.

Sickle-cell disease

A genetic disorder caused by a mutant allele, associated with high malaria infection areas.

Balanced polymorphism

A situation in genetics where two or more alleles persist in a population due to overdominant selection.

Trans-specific polymorphisms

Alleles that are shared between closely related species and arose before speciation.

Under-dominant selection

A selection process where heterozygote genotypes have lower fitness than either homozygous genotype.

Hex-A gene

The gene associated with Tay-Sachs disease, a lethal condition more frequent in certain populations.