Staff View: β-globin haplotypes in normal and hemoglobinopathic individuals from Reconcavo Baiano, state of Bahia, Brazil

β-globin haplotypes in normal and hemoglobinopathic individuals from Reconcavo Baiano, state of Bahia, Brazil

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 town...

Full description

Main Authors:	Silva, Wellington dos Santos, Guimarães, Maria de Nazaré Klautau, Grisolia, Cesar Koppe
Format:	Artigo
Language:	Inglês
Published:	Sociedade Brasileira de Genética 2018
Subjects:	Afro-brasileiros Hemoglobina Genética Hemoglobinapatias
Online Access:	http://repositorio.unb.br/handle/10482/33156 http://dx.doi.org/10.1590/S1415-47572010005000042
Tags:	Add Tag No Tags, Be the first to tag this record!

id	ir-10482-33156
recordtype	dspace
spelling	ir-10482-331562018-12-10T14:08:30Z β-globin haplotypes in normal and hemoglobinopathic individuals from Reconcavo Baiano, state of Bahia, Brazil Silva, Wellington dos Santos Guimarães, Maria de Nazaré Klautau Grisolia, Cesar Koppe Afro-brasileiros Hemoglobina Genética Hemoglobinapatias 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. 2018-12-10T14:08:11Z 2018-12-10T14:08:11Z 2010-05 Artigo 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. http://repositorio.unb.br/handle/10482/33156 http://dx.doi.org/10.1590/S1415-47572010005000042 Inglês Acesso Aberto 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. application/pdf Sociedade Brasileira de Genética
institution	REPOSITORIO UNB
collection	REPOSITORIO UNB
language	Inglês
topic	Afro-brasileiros Hemoglobina Genética Hemoglobinapatias
spellingShingle	Afro-brasileiros Hemoglobina Genética Hemoglobinapatias Silva, Wellington dos Santos Guimarães, Maria de Nazaré Klautau Grisolia, Cesar Koppe β-globin haplotypes in normal and hemoglobinopathic individuals from Reconcavo Baiano, state of Bahia, Brazil
description	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.
format	Artigo
author	Silva, Wellington dos Santos Guimarães, Maria de Nazaré Klautau Grisolia, Cesar Koppe
author_sort	Silva, Wellington dos Santos
title	β-globin haplotypes in normal and hemoglobinopathic individuals from Reconcavo Baiano, state of Bahia, Brazil
title_short	β-globin haplotypes in normal and hemoglobinopathic individuals from Reconcavo Baiano, state of Bahia, Brazil
title_full	β-globin haplotypes in normal and hemoglobinopathic individuals from Reconcavo Baiano, state of Bahia, Brazil
title_fullStr	β-globin haplotypes in normal and hemoglobinopathic individuals from Reconcavo Baiano, state of Bahia, Brazil
title_full_unstemmed	β-globin haplotypes in normal and hemoglobinopathic individuals from Reconcavo Baiano, state of Bahia, Brazil
title_sort	β-globin haplotypes in normal and hemoglobinopathic individuals from reconcavo baiano, state of bahia, brazil
publisher	Sociedade Brasileira de Genética
publishDate	2018
url	http://repositorio.unb.br/handle/10482/33156 http://dx.doi.org/10.1590/S1415-47572010005000042
_version_	1641987985945657344
score	13.657419

β-globin haplotypes in normal and hemoglobinopathic individuals from Reconcavo Baiano, state of Bahia, Brazil

Similar Items