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. Ahomozygous 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.
An individual who has two different abnormal alleles at a particular locus, one on each chromosome of a pair; usually refers to individuals affected with an autosomal recessive disorder
or they can be mutations at different locus of the same gene.
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