Rare allele heterozygosity and relative electromorph mutation rates in man. 1981

K K Bhatia

Previous studies of human populations have failed to find a significant relationship between genetic variability, as measured by total heterozygosity, and cistron size, as measured by subunit molecular weight of proteins, but the number of different rare alleles in human populations has been shown to be correlated with subunit size. The present paper examines these relationships further, utilizing data on electrophoretic variants at 27 loci for 12 human populations with a total of 800 000 individual system observation. The results indicate that, if genetic variability is measured by rare allele heterozygosity instead of total heterozygosity, there is a significant correlation with subunit size. In addition, there are significant differences for rare allele heterozygosity between multimeric and monomeric proteins, the range of variability being less in the multimers (and in the total) than for monomers. Finally, rare allele heterozygosity has a much bigger range of variability than the range of subunit size. By contrast, the range of rare allele heterozygosity between populations is less than ten-fold, a factor not evident in effective population sizes. Both interlocus and interpopulational estimates of relative electromorph mutation rates (REMR) have been calculated, utilizing the distributions of the number of different rare alleles as well as rare allele heterozygosity. The range of these estimates are much lower than the estimates given by Zouros (1979) using total heterozygosity as input.

UI MeSH Term Description Entries
D008957 Models, Genetic Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment. Genetic Models,Genetic Model,Model, Genetic
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D011487 Protein Conformation The characteristic 3-dimensional shape of a protein, including the secondary, supersecondary (motifs), tertiary (domains) and quaternary structure of the peptide chain. PROTEIN STRUCTURE, QUATERNARY describes the conformation assumed by multimeric proteins (aggregates of more than one polypeptide chain). Conformation, Protein,Conformations, Protein,Protein Conformations
D011506 Proteins Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein. Gene Products, Protein,Gene Proteins,Protein,Protein Gene Products,Proteins, Gene
D005006 Ethnicity A group of people with a common cultural heritage that sets them apart from others in a variety of social relationships. Ethnic Groups,Nationality,Ethnic Group,Nationalities
D006579 Heterozygote An individual having different alleles at one or more loci regarding a specific character. Carriers, Genetic,Genetic Carriers,Carrier, Genetic,Genetic Carrier,Heterozygotes
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000483 Alleles Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product. Allelomorphs,Allele,Allelomorph

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