Genetic variability of platelet glycoprotein Ibα gene

Detalhes bibliográficos
Autor(a) principal: Gonçalves, Marilda S.
Data de Publicação: 2004
Outros Autores: Ozelo, Margareth C., Costa, Devanira S. P., Siqueira, Lucia H., Machado, Tania M. F., Castro, Vagner, Menezes, Raimundo C., Soares, Manoel C. P., Annichino-Bizzacchi, Joyce Maria, Costa, Fernando Ferreira, Arruda, Valder Roberval
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UFBA
Texto Completo: http://repositorio.ufba.br/ri/handle/ri/14277
Resumo: Texto completo: acesso restrito. p. 107–116
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spelling Gonçalves, Marilda S.Ozelo, Margareth C.Costa, Devanira S. P.Siqueira, Lucia H.Machado, Tania M. F.Castro, VagnerMenezes, Raimundo C.Soares, Manoel C. P.Annichino-Bizzacchi, Joyce MariaCosta, Fernando FerreiraArruda, Valder RobervalGonçalves, Marilda S.Ozelo, Margareth C.Costa, Devanira S. P.Siqueira, Lucia H.Machado, Tania M. F.Castro, VagnerMenezes, Raimundo C.Soares, Manoel C. P.Annichino-Bizzacchi, Joyce MariaCosta, Fernando FerreiraArruda, Valder Roberval2014-01-07T13:08:26Z20040361-8609http://repositorio.ufba.br/ri/handle/ri/14277v. 77, n. 2Texto completo: acesso restrito. p. 107–116Platelet membrane glycoprotein (GP) Ibα is a critical component of platelet adhesion complex to subendothelium structures following tissue injury or pathological surfaces, such as atherosclerotic plaques. Polymorphisms of the GPIbα gene have been associated with a high risk for occlusive vascular disease, and its distribution varies considerably among distinct populations. These polymorphisms comprise the human platelet antigen (HPA)-2 system, the −5C/T dimorphism of the Kozak sequence, and the variable number of tandem 39-bp repeats (VNTR). Here we report the prevalence of the GPIbα gene polymorphisms among Brazilians, a highly ethnically diverse population. We analyzed 492 subjects of European, African, or Indigenous origin. It was possible to determine ten distinct haplotypes. The most common (∽40%) haplotype was the Kozak-TT/HPA-2aa/VNTR-CC for both Caucasian and African descent. However, among Indigenous, Kozak-TT/HPA-2aa/VNTR-CC and Kozak-TC/HPA-2aa/VNTR-CC were equally present. Although a strong linkage disequilibrium between VNTR and HPA-2 polymorphism had also been observed, here we determined incomplete linkage disequilibrium in 10% of subjects from all ethnic groups. VNTR-E, a rare variant lacking the 39-bp repeat, was identified in two unrelated subjects, and functional platelet studies revealed no abnormalities. The VNTR-A allele, the largest variant containing four copies of the repeats, was not identified in this population. However, homozygosity for the VNTR-A allele (Kozak-TT/HPA-2aa/VNTR-AA) was determined in two distinct species of nonhuman primates. These results suggest a greater complex evolutionary mechanism in the macroglycoprotein region of the GPIbα gene and may be useful in the design of gene–disease association studies for vascular disease. Am. J. Hematol. 77:107–116, 2004. © 2004 Wiley-Liss, Inc.Submitted by Edileide Reis (leyde-landy@hotmail.com) on 2013-12-04T10:32:32Z No. of bitstreams: 1 Marilda S. Gonçalves.pdf: 292735 bytes, checksum: f34b58f8d197bcdce7e6a4bdb6dcd805 (MD5)Approved for entry into archive by Flávia Ferreira (flaviaccf@yahoo.com.br) on 2014-01-07T13:08:26Z (GMT) No. of bitstreams: 1 Marilda S. Gonçalves.pdf: 292735 bytes, checksum: f34b58f8d197bcdce7e6a4bdb6dcd805 (MD5)Made available in DSpace on 2014-01-07T13:08:26Z (GMT). No. of bitstreams: 1 Marilda S. Gonçalves.pdf: 292735 bytes, checksum: f34b58f8d197bcdce7e6a4bdb6dcd805 (MD5) Previous issue date: 2004http://dx.doi.org/ 10.1002/ajh.20148reponame:Repositório Institucional da UFBAinstname:Universidade Federal da Bahia (UFBA)instacron:UFBAGlycoprotein Ib alphaPolymorphismPlateletGenetic diversityGenetic variability of platelet glycoprotein Ibα geneAmerican Journal of Hematologyinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article10000-01-01info:eu-repo/semantics/openAccessengORIGINALMarilda S. Gonçalves.pdfMarilda S. Gonçalves.pdfapplication/pdf292735https://repositorio.ufba.br/bitstream/ri/14277/1/Marilda%20S.%20Gon%c3%a7alves.pdff34b58f8d197bcdce7e6a4bdb6dcd805MD51LICENSElicense.txtlicense.txttext/plain1345https://repositorio.ufba.br/bitstream/ri/14277/2/license.txtff6eaa8b858ea317fded99f125f5fcd0MD52TEXTMarilda S. Gonçalves.pdf.txtMarilda S. 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dc.title.pt_BR.fl_str_mv Genetic variability of platelet glycoprotein Ibα gene
dc.title.alternative.pt_BR.fl_str_mv American Journal of Hematology
title Genetic variability of platelet glycoprotein Ibα gene
spellingShingle Genetic variability of platelet glycoprotein Ibα gene
Gonçalves, Marilda S.
Glycoprotein Ib alpha
Polymorphism
Platelet
Genetic diversity
title_short Genetic variability of platelet glycoprotein Ibα gene
title_full Genetic variability of platelet glycoprotein Ibα gene
title_fullStr Genetic variability of platelet glycoprotein Ibα gene
title_full_unstemmed Genetic variability of platelet glycoprotein Ibα gene
title_sort Genetic variability of platelet glycoprotein Ibα gene
author Gonçalves, Marilda S.
author_facet Gonçalves, Marilda S.
Ozelo, Margareth C.
Costa, Devanira S. P.
Siqueira, Lucia H.
Machado, Tania M. F.
Castro, Vagner
Menezes, Raimundo C.
Soares, Manoel C. P.
Annichino-Bizzacchi, Joyce Maria
Costa, Fernando Ferreira
Arruda, Valder Roberval
author_role author
author2 Ozelo, Margareth C.
Costa, Devanira S. P.
Siqueira, Lucia H.
Machado, Tania M. F.
Castro, Vagner
Menezes, Raimundo C.
Soares, Manoel C. P.
Annichino-Bizzacchi, Joyce Maria
Costa, Fernando Ferreira
Arruda, Valder Roberval
author2_role author
author
author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Gonçalves, Marilda S.
Ozelo, Margareth C.
Costa, Devanira S. P.
Siqueira, Lucia H.
Machado, Tania M. F.
Castro, Vagner
Menezes, Raimundo C.
Soares, Manoel C. P.
Annichino-Bizzacchi, Joyce Maria
Costa, Fernando Ferreira
Arruda, Valder Roberval
Gonçalves, Marilda S.
Ozelo, Margareth C.
Costa, Devanira S. P.
Siqueira, Lucia H.
Machado, Tania M. F.
Castro, Vagner
Menezes, Raimundo C.
Soares, Manoel C. P.
Annichino-Bizzacchi, Joyce Maria
Costa, Fernando Ferreira
Arruda, Valder Roberval
dc.subject.por.fl_str_mv Glycoprotein Ib alpha
Polymorphism
Platelet
Genetic diversity
topic Glycoprotein Ib alpha
Polymorphism
Platelet
Genetic diversity
description Texto completo: acesso restrito. p. 107–116
publishDate 2004
dc.date.issued.fl_str_mv 2004
dc.date.accessioned.fl_str_mv 2014-01-07T13:08:26Z
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dc.identifier.uri.fl_str_mv http://repositorio.ufba.br/ri/handle/ri/14277
dc.identifier.issn.none.fl_str_mv 0361-8609
dc.identifier.number.pt_BR.fl_str_mv v. 77, n. 2
identifier_str_mv 0361-8609
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dc.language.iso.fl_str_mv eng
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