Heterozygous

Heterozygous describes a diploid organism or cell with different alleles at a genetic locus, typically one inherited from each parent.

Allele: An allele is one of two or more versions of a DNA sequence at a particular genetic locus. Heterozygosity means carrying different alleles at the same locus.
Mendelian inheritance: Mendelian inheritance describes how allele pairs segregate and pass from parents to offspring. Segregation can give an offspring different parental alleles at a locus.
Autosomal recessive inheritance: Autosomal recessive inheritance occurs when a phenotype typically requires pathogenic variants in both copies of an autosomal gene. Heterozygotes often carry one pathogenic variant without having the recessive condition.
Genetic diversity: Genetic diversity is the variation in genetic makeup among individuals or populations. Heterozygous genotypes are one measure of variation within individuals.
Genetic locus: A genetic locus is a specific position on a chromosome or genome. The comparison that defines heterozygosity is made at one locus.
Dominance (genetics): Dominance describes how alleles at a locus affect a phenotype when present together. Dominance helps determine the phenotype of some heterozygotes.
Carrier (genetics): A genetic carrier has a variant associated with a condition but usually does not show its full phenotype. Many carriers are heterozygous for a recessive disease-associated variant.
Inbreeding depression: Inbreeding depression is reduced survival or reproduction associated with mating among relatives. Inbreeding can increase homozygosity and reduce heterozygosity across the genome.
Homozygosity: Homozygosity is the state of carrying identical alleles at a genetic locus. It is the opposite allele relationship at a locus.
Incomplete dominance: Incomplete dominance occurs when a heterozygote has an intermediate phenotype between those of the two homozygotes. It is one possible expression pattern for two different alleles.

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