| Registro completo |
| Provedor de dados: |
Genet. Mol. Biol.
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| País: |
Brazil
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| Título: |
alpha-thalassemia, HbS, and beta-globin gene cluster haplotypes in two Afro-Uruguayan sub-populations from northern and southern Uruguay
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| Autores: |
Luz,Julio A. da
Sans,Mónica
Kimura,Elza Miyuki
Albuquerque,Dulcinéia Martins
Sonati,Maria de Fatima
Costa,Fernando Ferreira
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| Data: |
2006-01-01
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| Ano: |
2006
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| Palavras-chave: |
Hemoglobinopathies
Alpha-thalassemias
HbS
Haplotypes
Afro-derived populations
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| Resumo: |
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 -alpha3,7thalassemia; 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 betaS, which is typical of African populations. Four individuals (10%) were heterozygous for betaS, three of them (13.6%) from the South, and one (5.6%) from the North. The betaS haplotypes were analyzed in eight individuals: two were homozygous betaS/betaS, two were heterozygous betaS/betathal, and four were heterozygous betaS/betaª. 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.
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| Tipo: |
Info:eu-repo/semantics/article
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| Idioma: |
Inglês
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| Identificador: |
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000400002
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| Editor: |
Sociedade Brasileira de Genética
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| Relação: |
10.1590/S1415-47572006000400002
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| Formato: |
text/html
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| Fonte: |
Genetics and Molecular Biology v.29 n.4 2006
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| Direitos: |
info:eu-repo/semantics/openAccess
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