“Private” Genetic Variants and the Frequency of Mutation Among South American Indians

Abstract

Electrophoretic studies were performed on 15 proteins of blood serum and of erythrocytes, from blood specimens from 72 villages of six relatively unacculturated and genetically pure Indian tribes of South America, for a total of 56,237 determinations. At least 10 different "private" variants were encountered, in 131 people. Two previously recognized genetic polymorphisms of these 15 proteins were also encountered. On the assumption that these variants are neutral from the standpoint of natural selection, and that only one-third of amino-acid substitutions in proteins result in electrophoretically detectable variants, the mutation rate is estimated from a formulation of Kimura and Ohta to be about 8 X 10--per locus per generation. The calculation involves several approximations which can be improved by further investigations; if confirmed, then for this class of mutations Indian mutation rates are roughly an order of magnitude higher than commonly envisioned.

High amounts of genetic differentiation between populations of the malaria vector Anopheles arabiensis from West Africa and eastern outer islands.

“…The number of effective migrants (Nm) was estimated by three different methods: the Slatkin private alleles method 47 (namely, alleles found in only one population as referred to by Neel 48 ), and by F-and R-statistics of each locus according 42 and Hartl and Clark 50 ).…”

GENETIC VARIABILITY AND DIVERGENCE IN CAVE POPULATIONS OFTROGLOPHILUS CAVICOLAANDT. ANDREINII(ORTHOPTERA, RHAPHIDOPHORIDAE)

“…However these stochastic models fail to justify the high levels of average heterozygosity in Troglophilus unless a value of IJ-= 10-4 is assumed. We consider this mutation rate unrealistically high for average values even if single loci have been detected in man with mutation rates of a comparable order of magnitude (Neel, 1973).…”

The Influence of Premeiotic Clusters of Mutation on Indirect Estimations of Mutation Rate

“…where K is the average number of rare variants per locus, N is population size and t is the average existing time of a mutant [7,9] . Kimura and Ohta [8] also showed that 4 log , 1 e e p t p N p p ¬ ® (2) in which N e is the effective population size and p is the frequency of the mutant allele.…”