Determinação de haplótipos do gene βs em portadores de anemia falciforme
Autor(a) principal: | |
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Data de Publicação: | 2010 |
Tipo de documento: | Dissertação |
Idioma: | por |
Título da fonte: | Repositório Institucional da UFRN |
Texto Completo: | https://repositorio.ufrn.br/jspui/handle/123456789/18543 |
Resumo: | Haplotypes linked to the βS gene represent patterns of DNA polymorphisms along chromosome 11 of individuals bearing the βS gene. Analysis of haplotypes, in addition to serving as an important source for anthropological studies about the ethnic origin of a population, contributes to a better understanding of the variations in clinical severity of sickle cell anemia. The aim of the present study was to determine βS gene haplotypes in a group of patients with sickle cell anemia treated at the Dalton Barbosa Cunha Hematology Center (Hemonorte) in Natal, Brazil and the Oncology and Hematology Center in Mossoró, Brazil. Blood samples were obtained from 53 non-related patients (27 males and 26 females), aged between 3 months and 61 years (mean age: 16.9 ± 12.1 years). Laboratory analyses consisted of the following: erythrogram, reticulocyte count, hemoglobin electrophoresis at alkaline pH, measurement of hemoglobin A2 and Fetal hemoglobin, solubility test and molecular analysis to determine βS gene haplotypes. DNA samples were extracted by illustra blood genomicPrep Mini Spin kit and βS gene haplotypes were determined by PCR-RFLP, using Xmn I, Hind III, Hinc II and Hinf I restriction enzymes for analysis of six polymorphic restriction sites in the beta cluster. Of 106 βS chromosomes studied, 75.5% were Central African Republic (CAR) haplotype, 11.3% Benin (BEN) and 6.6% Cameroon (CAM). The atypical haplotypes had a frequency of 6.6%. More than half the patients (58.5%) were identified as CAR/CAR genotype carriers, 16.9% heterozygous CAR/BEN, 13.2% CAR/CAM and 1.9% BEN/BEN. Patients with atypical haplotype in one or two chromosomes accounted for 9.5% (CAR/Atp, BEN/Atp and Atp/Atp). The genotype groups showed no statistically significant difference (p < 0.05) in their laboratory parameters. This is the first study related to βS haplotypes conducted in state of Rio Grande do Norte and the higher frequency of Cameroon halotype found, compared to other Brazilian states, suggests the existence of a peculiarity of African origin |
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Cabral, Cynthia Hatsue Kitayamahttp://lattes.cnpq.br/1859284385655146http://lattes.cnpq.br/9869053526045053Schimieguel, Dulce Martahttp://lattes.cnpq.br/6361482547166270Araújo, Aderson da Silvahttp://lattes.cnpq.br/9615780257704881Medeiros, Tereza Maria Dantas de2015-03-03T14:03:52Z2015-02-252015-03-03T14:03:52Z2010-05-11CABRAL, Cynthia Hatsue Kitayama. Determinação de haplótipos do gene βs em portadores de anemia falciforme. 2010. 97 f. Dissertação (Mestrado em Bioanálises e Medicamentos) - Universidade Federal do Rio Grande do Norte, Natal, 2010.https://repositorio.ufrn.br/jspui/handle/123456789/18543Haplotypes linked to the βS gene represent patterns of DNA polymorphisms along chromosome 11 of individuals bearing the βS gene. Analysis of haplotypes, in addition to serving as an important source for anthropological studies about the ethnic origin of a population, contributes to a better understanding of the variations in clinical severity of sickle cell anemia. The aim of the present study was to determine βS gene haplotypes in a group of patients with sickle cell anemia treated at the Dalton Barbosa Cunha Hematology Center (Hemonorte) in Natal, Brazil and the Oncology and Hematology Center in Mossoró, Brazil. Blood samples were obtained from 53 non-related patients (27 males and 26 females), aged between 3 months and 61 years (mean age: 16.9 ± 12.1 years). Laboratory analyses consisted of the following: erythrogram, reticulocyte count, hemoglobin electrophoresis at alkaline pH, measurement of hemoglobin A2 and Fetal hemoglobin, solubility test and molecular analysis to determine βS gene haplotypes. DNA samples were extracted by illustra blood genomicPrep Mini Spin kit and βS gene haplotypes were determined by PCR-RFLP, using Xmn I, Hind III, Hinc II and Hinf I restriction enzymes for analysis of six polymorphic restriction sites in the beta cluster. Of 106 βS chromosomes studied, 75.5% were Central African Republic (CAR) haplotype, 11.3% Benin (BEN) and 6.6% Cameroon (CAM). The atypical haplotypes had a frequency of 6.6%. More than half the patients (58.5%) were identified as CAR/CAR genotype carriers, 16.9% heterozygous CAR/BEN, 13.2% CAR/CAM and 1.9% BEN/BEN. Patients with atypical haplotype in one or two chromosomes accounted for 9.5% (CAR/Atp, BEN/Atp and Atp/Atp). The genotype groups showed no statistically significant difference (p < 0.05) in their laboratory parameters. This is the first study related to βS haplotypes conducted in state of Rio Grande do Norte and the higher frequency of Cameroon halotype found, compared to other Brazilian states, suggests the existence of a peculiarity of African originOs haplótipos do gene βs representam padrões de polimorfismos do DNA ao longo do cromossomo 11 de indivíduos portadores do gene βs. A análise dos haplótipos, além de servir como uma fonte importante para estudos antropológicos acerca da origem étnica de uma população, colabora para uma melhor compreensão da variação de gravidade clínica da anemia falciforme. O presente estudo teve como objetivo determinar os haplótipos do gene βs em um grupo de pacientes portadores de anemia falciforme atendidos no Ambulatório de Hematologia do Hemocentro Dalton Barbosa Cunha (Hemonorte) - Natal/RN e no Centro de Oncologia e Hematologia de Mossoró/RN. Foram obtidas amostras sangüíneas de 53 pacientes não aparentados (27 do sexo masculino e 26 do sexo feminino), com idade variando entre 3 meses e 61 anos (média de idade: 16,9 ± 12,1 anos). As análises laboratoriais consistiram em: eritrograma, contagem de reticulócitos, eletroforese de hemoglobina em pH alcalino, dosagem de hemoglobinas A2 e Fetal, teste de solubilidade e análise molecular para determinção dos haplótipos βs. O DNA foi extraído pelo kit illustra blood genomicPrep Mini Spin e a determinação dos haplótipos do gene S foi realizada por PCR-RFLP, utilizando as endonucleases de restrição Xmn I, Hind III, Hinc II e Hinf I para análise de 6 sítios polimórficos do cluster β. Os resultados observados mostraram, em relação ao número de cromossomos, o predomínio do haplótipo CAR (75,5%), frente aos haplótipos Benin (11,3%), e Camarões (6,6%). Os haplótipos atípicos tiveram freqüência de 6,6%. Com relação aos genótipos, mais da metade dos pacientes (58,5%) foram identificados como portadores do genótipo CAR/CAR. O segundo mais freqüente foi o CAR/BEN (16,9%), seguido de CAR/CAM (13,2%) e BEN/BEN (1,9%). Os pacientes com haplótipo atípico em um ou nos dois cromossomos representaram 9,5% (CAR/Atp, BEN/Atp e Atp/Atp). Não houve diferença estatisticamente significativa das médias dos parâmetros laboratoriais entre os diferentes grupos de genótipos comparados. O presente trabalho é o primeiro estudo relacionado aos haplótipos βs realizado no estado do Rio Grande do Norte e o encontro de uma maior freqüência do haplótipo Camarões, em relação a outros estados do Brasil, sugere a existência de uma peculiaridade da origem africana no estadoConselho Nacional de Desenvolvimento Científico e Tecnológicoapplication/pdfporUniversidade Federal do Rio Grande do NortePrograma de Pós-Graduação em Ciências FarmacêuticasUFRNBRBioanálises e MedicamentosAnemia falciformehaplótiposGene βsPCR-RFLPSickle cell anemiaHaplotypesβS genePCR-RFLPCNPQ::CIENCIAS DA SAUDE::FARMACIADeterminação de haplótipos do gene βs em portadores de anemia falciformeinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/masterThesisinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRNinstname:Universidade Federal do Rio Grande do Norte (UFRN)instacron:UFRNORIGINALDeterminacaoHaplótiposGeneβs_Cabral_2010.pdfapplication/pdf2413327https://repositorio.ufrn.br/bitstream/123456789/18543/1/DeterminacaoHapl%c3%b3tiposGene%ce%b2s_Cabral_2010.pdf062d4378968e15e34eed7123a46717b9MD51TEXTCynthiaHKC_DISSERT.pdf.txtCynthiaHKC_DISSERT.pdf.txtExtracted texttext/plain178568https://repositorio.ufrn.br/bitstream/123456789/18543/10/CynthiaHKC_DISSERT.pdf.txt46070c2f57e4b05be085ec176b1a97ecMD510DeterminacaoHaplótiposGeneβs_Cabral_2010.pdf.txtDeterminacaoHaplótiposGeneβs_Cabral_2010.pdf.txtExtracted texttext/plain178438https://repositorio.ufrn.br/bitstream/123456789/18543/12/DeterminacaoHapl%c3%b3tiposGene%ce%b2s_Cabral_2010.pdf.txt99661e1eff4a742041eb26016e987754MD512THUMBNAILCynthiaHKC_DISSERT.pdf.jpgCynthiaHKC_DISSERT.pdf.jpgIM Thumbnailimage/jpeg2466https://repositorio.ufrn.br/bitstream/123456789/18543/11/CynthiaHKC_DISSERT.pdf.jpg21f354dd742a0e8474ce399c308fc91aMD511DeterminacaoHaplótiposGeneβs_Cabral_2010.pdf.jpgDeterminacaoHaplótiposGeneβs_Cabral_2010.pdf.jpgGenerated Thumbnailimage/jpeg1267https://repositorio.ufrn.br/bitstream/123456789/18543/13/DeterminacaoHapl%c3%b3tiposGene%ce%b2s_Cabral_2010.pdf.jpgc999b6d6664e14c25aabcf8dfaf5bb3bMD513123456789/185432019-05-26 02:09:26.21oai:https://repositorio.ufrn.br:123456789/18543Repositório de PublicaçõesPUBhttp://repositorio.ufrn.br/oai/opendoar:2019-05-26T05:09:26Repositório Institucional da UFRN - Universidade Federal do Rio Grande do Norte (UFRN)false |
dc.title.por.fl_str_mv |
Determinação de haplótipos do gene βs em portadores de anemia falciforme |
title |
Determinação de haplótipos do gene βs em portadores de anemia falciforme |
spellingShingle |
Determinação de haplótipos do gene βs em portadores de anemia falciforme Cabral, Cynthia Hatsue Kitayama Anemia falciforme haplótipos Gene β s PCR-RFLP Sickle cell anemia Haplotypes β S gene PCR-RFLP CNPQ::CIENCIAS DA SAUDE::FARMACIA |
title_short |
Determinação de haplótipos do gene βs em portadores de anemia falciforme |
title_full |
Determinação de haplótipos do gene βs em portadores de anemia falciforme |
title_fullStr |
Determinação de haplótipos do gene βs em portadores de anemia falciforme |
title_full_unstemmed |
Determinação de haplótipos do gene βs em portadores de anemia falciforme |
title_sort |
Determinação de haplótipos do gene βs em portadores de anemia falciforme |
author |
Cabral, Cynthia Hatsue Kitayama |
author_facet |
Cabral, Cynthia Hatsue Kitayama |
author_role |
author |
dc.contributor.authorID.por.fl_str_mv |
|
dc.contributor.authorLattes.por.fl_str_mv |
http://lattes.cnpq.br/1859284385655146 |
dc.contributor.advisorID.por.fl_str_mv |
|
dc.contributor.advisorLattes.por.fl_str_mv |
http://lattes.cnpq.br/9869053526045053 |
dc.contributor.referees1.pt_BR.fl_str_mv |
Schimieguel, Dulce Marta |
dc.contributor.referees1ID.por.fl_str_mv |
|
dc.contributor.referees1Lattes.por.fl_str_mv |
http://lattes.cnpq.br/6361482547166270 |
dc.contributor.referees2.pt_BR.fl_str_mv |
Araújo, Aderson da Silva |
dc.contributor.referees2ID.por.fl_str_mv |
|
dc.contributor.referees2Lattes.por.fl_str_mv |
http://lattes.cnpq.br/9615780257704881 |
dc.contributor.author.fl_str_mv |
Cabral, Cynthia Hatsue Kitayama |
dc.contributor.advisor1.fl_str_mv |
Medeiros, Tereza Maria Dantas de |
contributor_str_mv |
Medeiros, Tereza Maria Dantas de |
dc.subject.por.fl_str_mv |
Anemia falciforme haplótipos Gene β s PCR-RFLP |
topic |
Anemia falciforme haplótipos Gene β s PCR-RFLP Sickle cell anemia Haplotypes β S gene PCR-RFLP CNPQ::CIENCIAS DA SAUDE::FARMACIA |
dc.subject.eng.fl_str_mv |
Sickle cell anemia Haplotypes β S gene PCR-RFLP |
dc.subject.cnpq.fl_str_mv |
CNPQ::CIENCIAS DA SAUDE::FARMACIA |
description |
Haplotypes linked to the βS gene represent patterns of DNA polymorphisms along chromosome 11 of individuals bearing the βS gene. Analysis of haplotypes, in addition to serving as an important source for anthropological studies about the ethnic origin of a population, contributes to a better understanding of the variations in clinical severity of sickle cell anemia. The aim of the present study was to determine βS gene haplotypes in a group of patients with sickle cell anemia treated at the Dalton Barbosa Cunha Hematology Center (Hemonorte) in Natal, Brazil and the Oncology and Hematology Center in Mossoró, Brazil. Blood samples were obtained from 53 non-related patients (27 males and 26 females), aged between 3 months and 61 years (mean age: 16.9 ± 12.1 years). Laboratory analyses consisted of the following: erythrogram, reticulocyte count, hemoglobin electrophoresis at alkaline pH, measurement of hemoglobin A2 and Fetal hemoglobin, solubility test and molecular analysis to determine βS gene haplotypes. DNA samples were extracted by illustra blood genomicPrep Mini Spin kit and βS gene haplotypes were determined by PCR-RFLP, using Xmn I, Hind III, Hinc II and Hinf I restriction enzymes for analysis of six polymorphic restriction sites in the beta cluster. Of 106 βS chromosomes studied, 75.5% were Central African Republic (CAR) haplotype, 11.3% Benin (BEN) and 6.6% Cameroon (CAM). The atypical haplotypes had a frequency of 6.6%. More than half the patients (58.5%) were identified as CAR/CAR genotype carriers, 16.9% heterozygous CAR/BEN, 13.2% CAR/CAM and 1.9% BEN/BEN. Patients with atypical haplotype in one or two chromosomes accounted for 9.5% (CAR/Atp, BEN/Atp and Atp/Atp). The genotype groups showed no statistically significant difference (p < 0.05) in their laboratory parameters. This is the first study related to βS haplotypes conducted in state of Rio Grande do Norte and the higher frequency of Cameroon halotype found, compared to other Brazilian states, suggests the existence of a peculiarity of African origin |
publishDate |
2010 |
dc.date.issued.fl_str_mv |
2010-05-11 |
dc.date.accessioned.fl_str_mv |
2015-03-03T14:03:52Z |
dc.date.available.fl_str_mv |
2015-02-25 2015-03-03T14:03:52Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/masterThesis |
format |
masterThesis |
status_str |
publishedVersion |
dc.identifier.citation.fl_str_mv |
CABRAL, Cynthia Hatsue Kitayama. Determinação de haplótipos do gene βs em portadores de anemia falciforme. 2010. 97 f. Dissertação (Mestrado em Bioanálises e Medicamentos) - Universidade Federal do Rio Grande do Norte, Natal, 2010. |
dc.identifier.uri.fl_str_mv |
https://repositorio.ufrn.br/jspui/handle/123456789/18543 |
identifier_str_mv |
CABRAL, Cynthia Hatsue Kitayama. Determinação de haplótipos do gene βs em portadores de anemia falciforme. 2010. 97 f. Dissertação (Mestrado em Bioanálises e Medicamentos) - Universidade Federal do Rio Grande do Norte, Natal, 2010. |
url |
https://repositorio.ufrn.br/jspui/handle/123456789/18543 |
dc.language.iso.fl_str_mv |
por |
language |
por |
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info:eu-repo/semantics/openAccess |
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openAccess |
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application/pdf |
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Universidade Federal do Rio Grande do Norte |
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Programa de Pós-Graduação em Ciências Farmacêuticas |
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UFRN |
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BR |
dc.publisher.department.fl_str_mv |
Bioanálises e Medicamentos |
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Universidade Federal do Rio Grande do Norte |
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reponame:Repositório Institucional da UFRN instname:Universidade Federal do Rio Grande do Norte (UFRN) instacron:UFRN |
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Universidade Federal do Rio Grande do Norte (UFRN) |
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UFRN |
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UFRN |
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Repositório Institucional da UFRN |
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