Discussion on NTSE

Compound heterozygosity in medical genetics is the condition of having two heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state. Compound heterozygosity reflects the diversity of the mutation base for many autosomal recessive genetic disorders. Such disorders are often known in some classic form, often because a single mutation is widespread in some population, and thus has been subject to extensive study and analysis. However, mutations in most disease-causing genes have arisen many times. Many cases of disease arise in individuals who have two unrelated alleles, who technically are heterozygotes.