Full text in pdf format

Further evidence for the existence of a major founder Y-chromosome haplotype in Amerindians

Fabrício R. Santos^I; Mara H. Hutz^II; Carlos E.A. Coimbra Jr.^III; Ricardo V. Santos^III,IV; Francisco M. Salzano^II; Sérgio D.J. Pena^I

^IDepartamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Caixa Postal 486, 30161-970 Belo Horizonte, MG, Brasil. Fax: (55 31) 227-3792. E-mail: spena@dcc.ufmg.br. Send correspondence to S.D.J.P.
^IIDepartamento de Genética, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brasil
^IIIDepartamento de Endemias Samuel Pessoa, Escola Nacional de Saúde Pública, FIOCRUZ, Rio de Janeiro, RJ, Brasil
^IVDepartamento de Antropologia, Museu Nacional, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brasil

ABSTRACT

e haplotyped human Y-chromosomes with two different PCR-based DNA polymorphisms. The first was the tetranucleotide microsatellite DYS19 (Y-27H39) while the other was based on sequence variation in alphoid repeats located in the Y centromeric region, typed by heteroduplex analysis. There are 23 different alphoid haplotypes (ah) that, together with DYS19, enable us to distinguish at least 37 different Y-chromosome haplotypes worldwide. Previously we studied 12 different Amerindian populations of diverse geographical origins (ranging from Argentina to Mexico) and from several linguistic groups. The haplotype IIA (combination of ah II and DYS19 allele A) was seen in the great majority of the individuals studied. We describe here results for 37 further Amerindians belonging to five tribes from the Amazon Basin and Central Brazil. Again, haplotype IIA was found in most individuals (87%), thus confirming its nature as a major, perhaps single, founder haplotype of Amerindians.

Keywords: Y-chromosome; haplotype; Amerindians.

REFERENCES

Bevilacqua, L.R.M., Mattevi, V.S., Ewald, G.M., Salzano, F.M., Coimbra, C.E.A., Jr., Santos, R.V. and Hutz, M.H.. Beta globin gene cluster haplotype distribution in five Brazilian Indian tribes. Am. J. Phys. Anthropol. (in press).

Pena, S.D.J., Prado, V.F. and Epplen, J.T. DNA diagnosis of human genetic individuality. J. Mol. Med. (in press, a).

Pena, S.D.J., Santos, F.R., Bianchi, N., Bravi, C.M., Carnese, F.R., Rothhammer, F., Gerelsaikhan, T., Munkhtuja, B. and Oyunsuren, T. Identification of a major founder Y-chromosome haplotype in Amerindians. Nature Genet. (in press, b).

Santos, F.R., Pena, S.D.J. and Epplen, J.T. (1993). Genetic and population study of a Y-linked tetranucleotide repeat DNA polymorphism with a simple non-isotopic technique. Hum. Genet. 90: 655-656.

Santos, F.R., Gerelsaikan, T., Munkhtuja, B., Oyunsuren, T., Epplen, J.T. and Pena, S.D.J. Geographic differences in the allele frequencies of the human Y-linked tetranucleotide polymorphism DYS19. Hum. Genet. (in press, a).

Santos, F.R., Pena, S.D.J. and Tyler-Smith, C. PCR haplotypes for the human Y chromosome based on alphoid satellite variants and heteroduplex analysis. Gene (in press, b).

Szathmary, E.J.E. and Reed, T.E. (1978). Calculation of the maximum amount of gene admixture in a hybrid population. Am. J. Phys. Anthropol. 48: 29-33.