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Type: Artigo de periódico
Title: α-thalassemia, Hbs, And β-globin Gene Cluster Haplotypes In Two Afro-uruguayan Sub-populations From Northern And Southern Uruguay
Author: da Luz J.A.
Sans M.
Kimura E.M.
Albuquerque D.M.
Sonati M. de F.
Costa F.F.
Abstract: Hemoglobinopathies are the most common monogenic disorders worldwide; however, they have never been systematically studied from a genetic perspective in Uruguay. In this study, we determined the frequencies of hemoglobin variants in Afro-Uruguayans. A sample of 52 healthy unrelated Afro-Uruguayans from the northern (N = 28) and southern (N = 24) regions of the country was analyzed. Eight individuals (15.4%) were heterozygous for -α3,7 thalassemia; seven of them (29.2%) were originally from the southern region, whereas one of them (3.6%) was from the northern region; the differences between both regions were statistically significant (p = 0.016 +/-0.003). The only structural mutation detected was βs, which is typical of African populations. Four individuals (10%) were heterozygous for βs, three of them (13.6%) from the South, and one (5.6%) from the North. The βs haplotypes were analyzed in eight individuals: two were homozygous βs/βs, two were heterozygous βs/βthal, and four were heterozygous βs/βA. This haplotype distribution (60% Bantu, 20% Benin, and 20% Bantu A2) is in agreement with historical records reporting a predominantly Bantu origin for the enslaved Africans brought to Uruguay. Even though this is a preliminary study, due to the small sample size, our results are suggestive of a relatively high incidence of hemoglobinopathies in the Afro-Uruguayan population. Copyright by the Brazilian Society of Genetics.
Rights: aberto
Identifier DOI: 
Date Issue: 2006
Appears in Collections:Unicamp - Artigos e Outros Documentos

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