Four is not more than two.
Year: 1995
Type: article
Abstract: Mendel was an advocate of the old math wherein four was more than two. He also established a genetics in which single mutations inactivated genes and gave rise to scorable phenotypes. Several recent observations in human genetics reveal a new math in which four mutations may cause a particular genetic disease whereas two do not. What are these diseases and how do they alter our thinking concerning established Mendelian genetics? In this issue of the journal, Zhang et al. report the molecular analysis of a patient with a disorder of aldosterone biosynthesis, corticosterone methyl oxidase II (CMO II) deficiency. The authors confirm and extend an initial observation by Pascoe et al., who found that each allele of the aldosterone synthase gene (CYP11B2) in subjects with this disorder harbors two mutations, giving rise to a total of four mutations at this locus in affected individuals. 17 refs., 1 fig.
Source: Europe PMC (PubMed Central)
Authors: D W Russell, P C White
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W64971329
