Cases of Unstable Hemoglobin and Methemoglobin Produced by De Novo Mutation

Abstract

The recording of cases of de novo mutation in man is required if we are to calculate estimates of mutation rates in our species. Most de novo mutants are ascertained through an abnormal phenotype (a clinical syndrome) inherited as an autosomal dominant or X-linked disorder. In the majority of cases, diagnosis of a mutant is founded upon results of clinical examination, but biochemical proof that a de novo mutation exists is, typically, lacking. Exceptions are the de novo mutants ascertained through a monumental effort involving screening of blood proteins by Neel and associates in Japan (1), and the de novo mutants of hemoglobin.