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Definition of Compound heterozygote

Compound heterozygote: The presence of two different mutant alleles at a particular gene locus, one on each chromosome of a pair.

The human genome contains two copies of each gene, a paternal and a maternal allele. A mutation affecting only one allele is called heterozygous. A homozygous mutation is the presence of the identical mutation on both alleles of a specific gene. However, when both alleles of a gene harbor mutations, but the mutations are different, these mutations are called compound heterozygous. Also called a genetic compound.

Source: MedTerms™ Medical Dictionary
Last Editorial Review: 6/14/2012

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