Título :	β-globin haplotypes in normal and hemoglobinopathic individuals from Reconcavo Baiano, state of Bahia, Brazil
Autor :	Silva, Wellington dos Santos Guimarães, Maria de Nazaré Klautau Grisolia, Cesar Koppe
Assunto::	Afro-brasileiros Hemoglobina Genética Hemoglobinapatias
Fecha de publicación :	may-2010
Editorial :	Sociedade Brasileira de Genética
Citación :	SILVA, Wellington dos Santos; KLAUTAU-GUIMARAES, Maria de Nazaré; GRISOLIA, Cesar Koppe. β-globin haplotypes in normal and hemoglobinopathic individuals from Reconcavo Baiano, State of Bahia, Brazil. Genetics and Molecular Biology, São Paulo, v. 33, n. 3, p. 411-417, maio 2010. Disponível em: <http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000300002&lng=en&nrm=iso>. Acesso em: 25 out. 2017. doi: http://dx.doi.org/10.1590/S1415-47572010005000042.
Abstract:	Five restriction site polymorphisms in the β-globin gene cluster (HincII-5'ε, HindIII-Gγ, HindIII-ªγ, HincII-'ψβ1 and HincII-3''ψβ1) were analyzed in three populations (n = 114) from Reconcavo Baiano, State of Bahia, Brazil. The groups included two urban populations from the towns of Cachoeira and Maragojipe and one rural Afro-descendant population, known as the "quilombo community", from Cachoeira municipality. The number of haplotypes found in the populations ranged from 10 to 13, which indicated higher diversity than in the parental populations. The haplotypes 2 (+----),3(----+),4(-+--+)and6(-++-+)onthe βA chromosomes were the most common, and two haplotypes, 9 (-++++)and 14 (++--+), were found exclusively in the Maragojipe population. The other haplotypes (1, 5, 9, 11, 12, 13, 14 and 16) had lower frequencies. Restriction site analysis and the derived haplotypes indicated homogeneity among the populations. Thirty-two individuals with hemoglobinopathies (17 sickle cell disease, 12 HbSC disease and 3 HbCC disease) were also analyzed. The haplotype frequencies of these patients differed significantly from those of the general population. In the sickle cell disease subgroup, the predominant haplotypes were BEN (Benin) and CAR (Central African Republic), with frequencies of 52.9% and 32.4%, respectively. The high frequency of the BEN haplotype agreed with the historical origin of the afro-descendant population in the state of Bahia. However, this frequency differed from that of Salvador, the state capital, where the CAR and BEN haplotypes have similar frequencies, probably as a consequence of domestic slave trade and subsequent internal migrations to other regions of Brazil.
Licença::	Genetics and Molecular Biology - All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License (CC BY NC). Fonte: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572010000300002&lng=en&nrm=iso. Acesso em: 25 out. 2017.
DOI:	http://dx.doi.org/10.1590/S1415-47572010005000042
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