The Autosomal Recessive Mode of Inheritance and Tests for the Detection of Heterozygotes

Abstract

Compared to the problems presented by the autosomal recessive mode of inheritance, the autosomal dominant mode seems simple. Apart from very rare new mutations, the autosomal recessive mode presents one with the progeny of ostensibly normal parents who are heterozygous for the gene in question; i.e. they carry only one defective gene and the normal allele with its “healthy” information prevents the defect from manifesting itself. Fig. 11 is a diagram of the typical situation.