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Definition

The presence of two different alleles of the same gene within an individual’s genome.

Use in clinical context

Individuals have two copies of genes on the autosomes, and females have two copies of genes on the X chromosomes. Heterozygous individuals (heterozygotes) have two different copies or alleles. Heterozygous individuals will have a 1 in 2 (50%) chance of passing each allele onto any children.

Last updated on 29th May, 2019