Skip to main content
NCBI home page
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1984 May;36(3):655–662.

A "disproportion" between the frequency of rare electropmorphs and enzyme deficiency variants in Amerindians.

H W Mohrenweiser, J V Neel
PMCID: PMC1684447  PMID: 6731440

Abstract

Our previous studies have revealed a higher frequency of nonpolymorphic electrophoretic variants in blood samples from Amerindians than in similar samples from Caucasians and Japanese. Our present study finds, by contrast, that the frequency of deficiency variants of 11 erythrocyte enzymes, sampled in nine Amerindian tribes of Central and South America, is essentially the same (1.5/1,000 determinations) as in Caucasians or Japanese. Possible explanations of the elevated frequency of mobility variants in the tropical-zone/ unacculturated populations include: higher mutation rates resulting in both electrophoretic and activity variants in Amerindians but increased selection against deficiency variants in the Amerindians, or comparable mutation rates in both populations coupled with a greater probability of a mobility variant attaining a relatively high frequency among the Amerindians.

Full text

PDF
655

Selected References

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

  1. Barrantes R., Smouse P. E., Neel J. V., Mohrenweiser H. W., Gershowitz H. Migration and genetic infrastructure of the Central American Guaymi and their affinities with other tribal groups. Am J Phys Anthropol. 1982 Jun;58(2):201–214. doi: 10.1002/ajpa.1330580213. [DOI] [PubMed] [Google Scholar]
  2. Beutler E., Yoshida A. Human glucose-6-phosphate dehydrogenase variants: a supplementary tabulation. Ann Hum Genet. 1973 Oct;37(2):151–155. doi: 10.1111/j.1469-1809.1973.tb01823.x. [DOI] [PubMed] [Google Scholar]
  3. Bhatia K. K., Blake N. M., Kirk R. L. The frequency of private electrophoretic variants in Australian aborigines and indirect estimates of mutation rate. Am J Hum Genet. 1979 Nov;31(6):731–740. [PMC free article] [PubMed] [Google Scholar]
  4. Bhatia K. K., Blake N. M., Serjeantson S. W., Kirk R. L. Frequency of private electrophoretic variants and indirect estimates of mutation rate in Papua New Guinea. Am J Hum Genet. 1981 Jan;33(1):112–122. [PMC free article] [PubMed] [Google Scholar]
  5. Black J. A., Rittenberg M. B., Bigley R. H., Koler R. D. Hemolytic anemia due to pyruvate kinase deficiency: characterization of the enzymatic activity from eight patients. Am J Hum Genet. 1979 May;31(3):300–310. [PMC free article] [PubMed] [Google Scholar]
  6. Fielek S., Mohrenweiser H. W. Erythrocyte enzyme deficiencies assessed with a miniature centrifugal analyzer. Clin Chem. 1979 Mar;25(3):384–388. [PubMed] [Google Scholar]
  7. Gershowitz H., Layrisse M., Layrisse Z., Neel J. V., Brewer C., Chagnon N., Ayres M. Gene frequencies and microdifferentiation among the Makiritare Indians. I. Eleven blood group systems and the ABH-Le secretor traits: a note on Rh gene frequency determinations. Am J Hum Genet. 1970 Sep;22(5):515–525. [PMC free article] [PubMed] [Google Scholar]
  8. Mohrenweiser H. W. Enzyme-deficiency variants: frequency and potential significance in human populations. Isozymes Curr Top Biol Med Res. 1983;10:51–68. [PubMed] [Google Scholar]
  9. Mohrenweiser H. W., Fielek S. Elevated frequency of carriers for triosephosphate isomerase deficiency in newborn infants. Pediatr Res. 1982 Nov;16(11):960–963. doi: 10.1203/00006450-198211000-00012. [DOI] [PubMed] [Google Scholar]
  10. Mohrenweiser H. W. Frequency of enzyme deficiency variants in erythrocytes of newborn infants. Proc Natl Acad Sci U S A. 1981 Aug;78(8):5046–5050. doi: 10.1073/pnas.78.8.5046. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Mohrenweiser H. W., Novotny J. E. ACP1GUA-1--a low-activity variant of human erythrocyte acid phosphatase: association with increased glutathione reductase activity. Am J Hum Genet. 1982 May;34(3):425–433. [PMC free article] [PubMed] [Google Scholar]
  12. Mohrenweiser H. W., Novotny J. E. An enzymatically inactive variant of human lactate dehydrogenase-LDHBGUA-1. Study of subunit interaction. Biochim Biophys Acta. 1982 Mar 18;702(1):90–98. doi: 10.1016/0167-4838(82)90030-9. [DOI] [PubMed] [Google Scholar]
  13. Mohrenweiser H., Neel J. V., Mestriner M. A., Salzano F. M., Migliazza E., Simões A. L., Yoshihara C. M. Electrophoretic variants in three Amerindian tribes: the Baniwa, Kanamari, and Central Pano of western Brazil. Am J Phys Anthropol. 1979 Feb;50(2):237–246. doi: 10.1002/ajpa.1330500212. [DOI] [PubMed] [Google Scholar]
  14. Neel J. V. Frequency of spontaneous and induced "point" mutations in higher eukaryotes. J Hered. 1983 Jan-Feb;74(1):2–15. doi: 10.1093/oxfordjournals.jhered.a109711. [DOI] [PubMed] [Google Scholar]
  15. Neel J. V., Gershowitz H., Mohrenweiser H. W., Amos B., Kostyu D. D., Salzano F. M., Mestriner M. A., Lawrence D., Simões A. L., Smouse P. E. Genetic studies on the Ticuna, an enigmatic tribe of Central Amazonas. Ann Hum Genet. 1980 Jul;44(Pt 1):37–54. doi: 10.1111/j.1469-1809.1980.tb00944.x. [DOI] [PubMed] [Google Scholar]
  16. Neel J. V., Mohrenweiser H. W., Meisler M. H. Rate of spontaneous mutation at human loci encoding protein structure. Proc Natl Acad Sci U S A. 1980 Oct;77(10):6037–6041. doi: 10.1073/pnas.77.10.6037. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. Neel J. V. Rare variants, private polymorphisms, and locus heterozygosity in Amerindian populations. Am J Hum Genet. 1978 Sep;30(5):465–490. [PMC free article] [PubMed] [Google Scholar]
  18. Neel J. V., Rothman E. D. Indirect estimates of mutation rates in tribal Amerindians. Proc Natl Acad Sci U S A. 1978 Nov;75(11):5585–5588. doi: 10.1073/pnas.75.11.5585. [DOI] [PMC free article] [PubMed] [Google Scholar]
  19. Neel J. V., Rothman E. Is there a difference among human populations in the rate with which mutation produces electrophoretic variants? Proc Natl Acad Sci U S A. 1981 May;78(5):3108–3112. doi: 10.1073/pnas.78.5.3108. [DOI] [PMC free article] [PubMed] [Google Scholar]
  20. Neel J. V., Satoh C., Hamilton H. B., Otake M., Goriki K., Kageoka T., Fujita M., Neriishi S., Asakawa J. Search for mutations affecting protein structure in children of atomic bomb survivors: preliminary report. Proc Natl Acad Sci U S A. 1980 Jul;77(7):4221–4225. doi: 10.1073/pnas.77.7.4221. [DOI] [PMC free article] [PubMed] [Google Scholar]
  21. Neel J. V., Tanis R. J., Migliazza E. C., Spielman R. S., Salzano F., Oliver W. J., Morrow M., Bachofer S. Genetic studies of the Macushi and Wapishana Indians. I. Rare genetic variants and a "private polymorphism' of esterase A. Hum Genet. 1977 Apr 7;36(1):81–107. doi: 10.1007/BF00390440. [DOI] [PubMed] [Google Scholar]
  22. Rothman E. D., Adams J. Estimation of expected number of rare alleles of a locus and calculation of mutation rate. Proc Natl Acad Sci U S A. 1978 Oct;75(10):5094–5098. doi: 10.1073/pnas.75.10.5094. [DOI] [PMC free article] [PubMed] [Google Scholar]
  23. Satoh C., Neel J. V., Yamashita A., Goriki K., Fujita M., Hamilton H. B. The frequency among Japanese of heterozygotes for deficiency variants of 11 enzymes. Am J Hum Genet. 1983 Jul;35(4):656–674. [PMC free article] [PubMed] [Google Scholar]
  24. Tanis R. J., Neel J. V., Dovey H., Morrow M. The genetic structure of a tribal population, the Yanomama Indians. IX. Gene frequencies for 18 serum protein and erythrocyte enzyme systems in the Yanomama and five neighboring tribes: nine new variants. Am J Hum Genet. 1973 Nov;25(6):655–676. [PMC free article] [PubMed] [Google Scholar]
  25. Tanis R. J., Neel J. V., Torres de Arauz R. Two more "private" polymorphisms of Amerindian tribes: LDHb GUA-1 and ACP1 B GUA-1 in the Guaymi in Panama. Am J Hum Genet. 1977 Sep;29(5):419–430. [PMC free article] [PubMed] [Google Scholar]
  26. Yoshida A., Beutler E., Motulsky A. G. Human glucose-6-phosphate dehydrogenase variants. Bull World Health Organ. 1971;45(2):243–253. [PMC free article] [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES