Beta-Globin Gene Cluster Haplotypes in Afro-Uruguayans from Two Geographical Regions (South and North)

Author(s)

Da Luz, Julio ^[1] ; Kimura, Elza Miyuki ^[2] ; Costa, Fernando Ferreira ^[3] ; Sonati, Maria de Fatima ^[2] ; Sans, Monica ^[4]

Affiliation

^[1] Univ Republica, Fac Med, Dept Genet, Montevideo 11200 - Uruguay

^[2] Univ Estadual Campinas, Fac Ciencias Med, Dept Patol Clin, Sao Paulo - Brazil

^[3] Univ Estadual Campinas, Fac Ciencias Med, Hemoctr, Sao Paulo - Brazil

^[4] Univ Republica, Dept Antropol Biol, Fac Humanidades & Ciencias Educ, Montevideo 11200 - Uruguay

• Document type: Journal article
• Source: AMERICAN JOURNAL OF HUMAN BIOLOGY; v. 22, n. 1, p. 124-128, JAN-FEB 2010.
• Web of Science Citations: 4

Abstract

The beta-globin gene cluster haplotypes were identified in 52 and 40 chromosomes from two Afro-Uruguayan populations located in the South and North of the country, respectively. In both regions, the 5'haplotype 2 (+ - - - -), characteristic of non-African populations, was the most frequent, reflecting a strong process of admixture in Afro-Uruguayans (0.355 and 0.262, respectively). The haplotypes 3 (- - - - +) and 4 (- + - - +), characteristics of African sub-Saharan populations, present inverse frequencies in North and South: whereas in the South haplotype 3 is the second most frequent (0.232), and haplotype 4 presents a low frequency (0.019), in the North haplotype 4 is the third most frequent (0.140), and haplotype 3 only reaches an intermediate frequency (0.088). The pairwise F(ST) and the exact test of differentiation show genetic heterogeneity between both regions. Nei's genetic distance show that South and North present affinities with Bantu groups, although the North present the smallest genetic distance with the Mandenka, a Senegalese population. With respect to 3' haplotypes, haplotype I was the most frequent in both populations, followed by haplotype 11, characteristic of sub-Saharan Africans. The high frequencies of haplotype III-Asian could indicate admixture with Native American populations. The differences observed between both Uruguayan regions could be explained by microevolutionary events as genetic drift, founder effects, differential admixture, and/or distinct origin of the African slaves introduced in those regions. Am. J. Hum. Biol. 22:124-128, 2010. (C) 2009 Wiley-Liss, Inc. (AU)

• FAPESP's process: 02/13801-7 - Hereditary hemoglobin disorders: molecular genetics, clinical features and animal models with the production of transgenic animals
• Grantee: Fernando Ferreira Costa
• Support Opportunities: Research Projects - Thematic Grants