A "disproportion" Between the Frequency of Rare Electropmorphs and Enzyme Deficiency Variants in Amerindians

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 1984 May 1

PMID 6731440

Citations 5

Authors

H W Mohrenweiser

J V Neel

Affiliations

Soon will be listed here.

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.

Citing Articles

Prevalence of pyruvate kinase deficiency: A systematic literature review.

Secrest M, Storm M, Carrington C, Casso D, Gilroy K, Pladson L Eur J Haematol. 2020; 105(2):173-184.

PMID: 32279356 PMC: 7496626. DOI: 10.1111/ejh.13424.

G6PD deficiency in Latin America: systematic review on prevalence and variants.

Monteiro W, Val F, Siqueira A, Franca G, Sampaio V, Melo G Mem Inst Oswaldo Cruz. 2014; 109(5):553-68.

PMID: 25141282 PMC: 4156449. DOI: 10.1590/0074-0276140123.

A revised estimate of the amount of genetic variation in human proteins: implications for the distribution of DNA polymorphisms.

Neel J Am J Hum Genet. 1984; 36(5):1135-48.

PMID: 6093507 PMC: 1684510.

Functional hemizygosity in the human genome: direct estimate from twelve erythrocyte enzyme loci.

Mohrenweiser H Hum Genet. 1987; 77(3):241-5.

PMID: 3479387 DOI: 10.1007/BF00284477.

A revised indirect estimate of mutation rates in Amerindians.

Neel J, Mohrenweiser H, Rothman E, Naidu J Am J Hum Genet. 1986; 38(5):649-66.

PMID: 3459353 PMC: 1684814.

References

Neel J . Frequency of spontaneous and induced "point" mutations in higher eukaryotes. J Hered. 1983; 74(1):2-15. DOI: 10.1093/oxfordjournals.jhered.a109711. View

Black J, RITTENBERG M, BIGLEY R, Koler R . Hemolytic anemia due to pyruvate kinase deficiency: characterization of the enzymatic activity from eight patients. Am J Hum Genet. 1979; 31(3):300-10. PMC: 1685777. View

Neel J, Rothman E . Indirect estimates of mutation rates in tribal Amerindians. Proc Natl Acad Sci U S A. 1978; 75(11):5585-8. PMC: 393011. DOI: 10.1073/pnas.75.11.5585. View

Beutler E, Yoshida A . Human glucose-6-phosphate dehydrogenase variants: a supplementary tabulation. Ann Hum Genet. 1973; 37(2):151-5. DOI: 10.1111/j.1469-1809.1973.tb01823.x. View

Mohrenweiser H, Neel J, Mestriner M, Salzano F, Migliazza E, Simoes A . Electrophoretic variants in three Amerindian tribes: the Baniwa, Kanamari, and Central Pano of western Brazil. Am J Phys Anthropol. 1979; 50(2):237-46. DOI: 10.1002/ajpa.1330500212. View

Mohrenweiser H, Novotny J . ACP1GUA-1--a low-activity variant of human erythrocyte acid phosphatase: association with increased glutathione reductase activity. Am J Hum Genet. 1982; 34(3):425-33. PMC: 1685341. View

GERSHOWITZ H, LAYRISSE M, Layrisse Z, Neel J, Brewer C, Chagnon N . 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; 22(5):515-25. PMC: 1706623. View

SATOH C, Neel J, Yamashita A, Goriki K, Fujita M, Hamilton H . The frequency among Japanese of heterozygotes for deficiency variants of 11 enzymes. Am J Hum Genet. 1983; 35(4):656-74. PMC: 1685727. View

Barrantes R, Smouse P, Neel J, Mohrenweiser H, GERSHOWITZ H . Migration and genetic infrastructure of the Central American Guaymi and their affinities with other tribal groups. Am J Phys Anthropol. 1982; 58(2):201-14. DOI: 10.1002/ajpa.1330580213. View

10.

Neel J, 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; 78(5):3108-12. PMC: 319509. DOI: 10.1073/pnas.78.5.3108. View

11.

Neel J, SATOH C, Hamilton H, Otake M, Goriki K, Kageoka T . Search for mutations affecting protein structure in children of atomic bomb survivors: preliminary report. Proc Natl Acad Sci U S A. 1980; 77(7):4221-5. PMC: 349803. DOI: 10.1073/pnas.77.7.4221. View

12.

Bhatia K, Blake N, Serjeantson S, Kirk R . Frequency of private electrophoretic variants and indirect estimates of mutation rate in Papua New Guinea. Am J Hum Genet. 1981; 33(1):112-22. PMC: 1684889. View

13.

Mohrenweiser H, Fielek S . Elevated frequency of carriers for triosephosphate isomerase deficiency in newborn infants. Pediatr Res. 1982; 16(11):960-3. DOI: 10.1203/00006450-198211000-00012. View

14.

Yoshida A, Beutler E, Motulsky A . Human glucose-6-phosphate dehydrogenase variants. Bull World Health Organ. 1971; 45(2):243-53. PMC: 2427914. View

15.

Neel J, Mohrenweiser H, Meisler M . Rate of spontaneous mutation at human loci encoding protein structure. Proc Natl Acad Sci U S A. 1980; 77(10):6037-41. PMC: 350208. DOI: 10.1073/pnas.77.10.6037. View

16.

Bhatia K, Blake N, Kirk R . The frequency of private electrophoretic variants in Australian aborigines and indirect estimates of mutation rate. Am J Hum Genet. 1979; 31(6):731-40. PMC: 1686050. View

17.

Rothman E, 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; 75(10):5094-8. PMC: 336270. DOI: 10.1073/pnas.75.10.5094. View

18.

Neel J, Tanis R, Migliazza E, Spielman R, Salzano F, Oliver W . Genetic studies of the Macushi and Wapishana Indians. I. Rare genetic variants and a "private polymorphism' of esterase A. Hum Genet. 1977; 36(1):81-107. DOI: 10.1007/BF00390440. View

19.

Fielek S, Mohrenweiser H . Erythrocyte enzyme deficiencies assessed with a miniature centrifugal analyzer. Clin Chem. 1979; 25(3):384-8. View

20.

Tanis R, Neel J, 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; 25(6):655-76. PMC: 1762573. View