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. 1979 Dec;76(12):6500–6504. doi: 10.1073/pnas.76.12.6500

Human heterozygosity: a new estimate.

E H McConkey, B J Taylor, D Phan
PMCID: PMC411893  PMID: 293737

Abstract

Several hundred polypeptides from four human diploid fibroblast cell lines were compared by high-resolution two-dimensional polyacrylamide gel electrophoresis and double-label autoradiography under conditions where allelic products that differ by a single charged amino acid would be distinguished. The average heterozygosity represented by this set of gene products appears to be less than 1% for changes involving charged amino acids.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Anderson L., Anderson N. G. High resolution two-dimensional electrophoresis of human plasma proteins. Proc Natl Acad Sci U S A. 1977 Dec;74(12):5421–5425. doi: 10.1073/pnas.74.12.5421. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Anderson N. L., Hickman B. J. Analytical techniques for cell fractions. XXIV. Isoelectric point stadnards for two-dimensional electrophoresis. Anal Biochem. 1979 Mar;93(2):312–320. doi: 10.1016/s0003-2697(79)80157-8. [DOI] [PubMed] [Google Scholar]
  3. Berger E. M., Weber L. The ribosomes of Drosophila. II. Studies on intraspecific variation. Genetics. 1974 Dec;78(4):1173–1183. doi: 10.1093/genetics/78.4.1173. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Bonner W. M., Laskey R. A. A film detection method for tritium-labelled proteins and nucleic acids in polyacrylamide gels. Eur J Biochem. 1974 Jul 1;46(1):83–88. doi: 10.1111/j.1432-1033.1974.tb03599.x. [DOI] [PubMed] [Google Scholar]
  5. Brown A. J., Langley C. H. Reevaluation of level of genic heterozygosity in natural population of Drosophila melanogaster by two-dimensional electrophoresis. Proc Natl Acad Sci U S A. 1979 May;76(5):2381–2384. doi: 10.1073/pnas.76.5.2381. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Harris H., Hopkinson D. A. Average heterozygosity per locus in man: an estimate based on the incidence of enzyme polymorphisms. Ann Hum Genet. 1972 Jul;36(1):9–20. doi: 10.1111/j.1469-1809.1972.tb00578.x. [DOI] [PubMed] [Google Scholar]
  7. Harris H., Hopkinson D. A., Edwards Y. H. Polymorphism and the subunit structure of enzymes: a contribution to the neutralist-selectionist controversy. Proc Natl Acad Sci U S A. 1977 Feb;74(2):698–701. doi: 10.1073/pnas.74.2.698. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. Johnson G. B. Enzyme polymorphism and metabolism. Science. 1974 Apr 5;184(4132):28–37. doi: 10.1126/science.184.4132.28. [DOI] [PubMed] [Google Scholar]
  9. Johnson G. Genetically controlled variation in the shapes of enzymes. Prog Nucleic Acid Res Mol Biol. 1979;22:293–226. doi: 10.1016/s0079-6603(08)60802-8. [DOI] [PubMed] [Google Scholar]
  10. Jones H. W., Jr, McKusick V. A., Harper P. S., Wuu K. D. George Otto Gey. (1899-1970). The HeLa cell and a reappraisal of its origin. Obstet Gynecol. 1971 Dec;38(6):945–949. [PubMed] [Google Scholar]
  11. Kaltschmidt E., Wittmann H. G. Ribosomal proteins. VII. Two-dimensional polyacrylamide gel electrophoresis for fingerprinting of ribosomal proteins. Anal Biochem. 1970 Aug;36(2):401–412. doi: 10.1016/0003-2697(70)90376-3. [DOI] [PubMed] [Google Scholar]
  12. McConkey E. H. Double-label autoradiography for comparison of complex protein mixtures after gel electrophoresis. Anal Biochem. 1979 Jul 1;96(1):39–44. doi: 10.1016/0003-2697(79)90551-7. [DOI] [PubMed] [Google Scholar]
  13. Mets L. J., Bogorad L. Two-dimensional polyacrylamide gel electrophoresis: an improved method for ribosomal proteins. Anal Biochem. 1974 Jan;57(1):200–210. doi: 10.1016/0003-2697(74)90065-7. [DOI] [PubMed] [Google Scholar]
  14. O'Farrell P. H. High resolution two-dimensional electrophoresis of proteins. J Biol Chem. 1975 May 25;250(10):4007–4021. [PMC free article] [PubMed] [Google Scholar]
  15. Parker J., Pollard J. W., Friesen J. D., Stanners C. P. Stuttering: high-level mistranslation in animal and bacterial cells. Proc Natl Acad Sci U S A. 1978 Mar;75(3):1091–1095. doi: 10.1073/pnas.75.3.1091. [DOI] [PMC free article] [PubMed] [Google Scholar]
  16. Schneider E. L., Mitsui Y., Au K. S., Shorr S. S. Tissue-specific differences in cultured human diploid fibroblasts. Exp Cell Res. 1977 Aug;108(1):1–6. doi: 10.1016/s0014-4827(77)80002-5. [DOI] [PubMed] [Google Scholar]
  17. Selander R. K., Kaufman D. W. Genic variability and strategies of adaptation in animals. Proc Natl Acad Sci U S A. 1973 Jun;70(6):1875–1877. doi: 10.1073/pnas.70.6.1875. [DOI] [PMC free article] [PubMed] [Google Scholar]
  18. Singh R. S., Lewontin R. C., Felton A. A. Genetic heterogeneity within electrophoretic "alleles" of xanthine dehydrogenase in Drosophila pseudoobscura. Genetics. 1976 Nov;84(3):609–629. doi: 10.1093/genetics/84.3.609. [DOI] [PMC free article] [PubMed] [Google Scholar]
  19. Steinberg R. A., O'Farrell P. H., Friedrich U., Coffino P. Mutations causing charge alterations in regulatory subunits of the cAMP-dependent protein kinase of cultured S49 lymphoma cells. Cell. 1977 Mar;10(3):381–391. doi: 10.1016/0092-8674(77)90025-3. [DOI] [PubMed] [Google Scholar]
  20. Walton K. E., Styer D., Gruenstein E. I. Genetic polymorphism in normal human fibroblasts as analyzed by two-dimensional polyacrylamide gel electrophoresis. J Biol Chem. 1979 Aug 25;254(16):7951–7960. [PubMed] [Google Scholar]
  21. Weber K., Osborn M. The reliability of molecular weight determinations by dodecyl sulfate-polyacrylamide gel electrophoresis. J Biol Chem. 1969 Aug 25;244(16):4406–4412. [PubMed] [Google Scholar]

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