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Document Type

Article

Authors

A. H. Heller, 1Departamento de Gene´tica, Instituto de Biocieˆncias, Universidade Federal do Rio Grande do Sul, Caixa Postal 15053, 91501-970 Porto Alegre, RS, Brazil.
F. M. Salzano, 1Departamento de Gene´tica, Instituto de Biocieˆncias, Universidade Federal do Rio Grande do Sul, Caixa Postal 15053, 91501-970 Porto Alegre, RS, Brazil.
R. Barrantes, 2Seccio´n de Genetica Humana, Instituto Nacional de Investigaciones en Salud (INISA), Universidad de Costa Rica, San Jose´, Costa Rica.
M. Krylov, Department of Epidemiology and Genetics of Rheumatic Disease, Institute of Rheumatology, Russian Academy of Science, Moscow, Russia.
L. Benevolenskaya, Department of Epidemiology and Genetics of Rheumatic Disease, Institute of Rheumatology, Russian Academy of Science, Moscow, Russia.
F. C. Arnett, University of Texas Health Science Center, Houston, TX.
B. Munkhbat, Institute of Clinical Pathology, Ulaanbaatar, Mongolia.
N. Munkhtuvshin, Institute of Clinical Pathology, Ulaanbaatar, Mongolia.
K. Tsuji, Department of Transplantation Immunology, School of Medicine, Tokay University, Kanagawa, Japan.
M. H. Hutz, Departamento de Gene´tica, Instituto de Biocieˆncias, Universidade Federal do Rio Grande do Sul, Caixa Postal 15053, 91501-970 Porto Alegre, RS, Brazil.
F. R. Carnese, Instituto de Ciencias Antropolo´gicas, Facultad de Filosofia y Letras, Universidad de Buenos Aires, 1406 Buenos Aires, Argentina.
A. S. Goioechea, Instituto de Ciencias Antropolo´gicas, Facultad de Filosofia y Letras, Universidad de Buenos Aires, 1406 Buenos Aires, Argentina.
L. B. Freitas, Departamento de Gene´tica, Instituto de Biocieˆncias, Universidade Federal do Rio Grande do Sul, Caixa Postal 15053, 91501-970 Porto Alegre, RS, Brazil.
S. L. Bonatto, Centro de Biologia Genoˆmica e Molecular, Faculdade de Biocieˆncias, Pontifı´cia Universidade Cato´lica do Rio Grande do Sul, Ipiranga 6681, 90610-001 Porto Alegre, RS, Brazil.

Abstract

One-hundred three individuals from two Mongolian, two Siberian, and ten native American populations were studied in relation to a 340- bp sequence from an Alu insertion located in the 3 untranslated region of the LDLR gene. Seven haplotypes have been determined, and haplotype B1 was the most common, accounting for about half the sequences found. In general, diversity values are quite high, about 2.5 times higher than those found in other autosomal Alu sequences. Almost all (93%) of the variability occurs at the intrapopulation level, but the greatest among-group differentiation (6–8%) was found when we grouped in a single population all Native Americans plus Siberian Eskimos and Chukchi and compared them with Mongolians. This result is compatible with earlier mtDNA and Y-chromosome suggestions of a single origin for the first colonizers of the American continent. With this nuclear locus it was not possible to broadly distinguish between Central and South American natives. No evidence of selection or marked demographic changes was obtained with these data.

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