Data/hora: 18/05/2024 17:27:18

Provedor de dados: 	Genetics and Molecular Biology	
País: 	Brazil	
Título: 	alpha-thalassemia, HbS, and beta-globin gene cluster haplotypes in two Afro-Uruguayan sub-populations from northern and southern Uruguay	
Autores: 	Luz,Julio A. da; Sans,Mónica; Kimura,Elza Miyuki; Albuquerque,Dulcinéia Martins; Sonati,Maria de Fatima; Costa,Fernando Ferreira.	
Data: 	2006-01-01	
Ano: 	2006	
Palavras-chave: 	Hemoglobinopathies; Alpha-thalassemias; HbS; Haplotypes; Afro-derived populations.	
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.	
Tipo: 	Info:eu-repo/semantics/article	
Idioma: 	Inglês	
Identificador: 	http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000400002	
Editor: 	Sociedade Brasileira de Genética	
Relação: 	10.1590/S1415-47572006000400002	
Formato: 	text/html	
Fonte: 	Genetics and Molecular Biology  v.29 n.4 2006	
Fonte: 	info:eu-repo/semantics/openAccess