Rate of spontaneous mutation at human loci encoding protein structure.

Abstract

The techniques of electrophoresis were used in a search for evidence of mutation affecting protein structure, the indicators being Hb and a set of serum proteins and erythrocyte enzymes. Among 94,796 locus tests on Amerindians from Central and South America, there was no evidence for mutation. Among 105,649 locus tests on newborn infants in Ann Arbor, Michigan [USA], there was also no evidence for mutation. No mutations were encountered in a series of 208,196 locus tests involving Japanese children [Neel et al., 1980]; no mutations were found in 113,478 locus tests on inhabitants of the UK [Harris et al, 1974]. This failure to demonstrate any mutations of this type in a total of 522,119 locus tests excludes, at the 95% level of probability, a mutation rate greater than 0.6 .times. 10-5/locus per generation in this combination of populations.