Medical 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: 1/25/2017
Medical Dictionary Definitions A - Z
Search Medical Dictionary
- What Is Inherited Lipodystrophy?
- Do You Take Good Care of Your Eyes?
- Tips for a Clean Home & Healthy Cat