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dc.contributor.CRUESPUniversidade Estadual de Campinaspt_BR
dc.typeArtigo de periódicopt_BR
dc.titleGenetic variability of platelet glycoprotein Ib alpha genept_BR
dc.contributor.authorOzelo, MCpt_BR
dc.contributor.authorCosta, DSPpt_BR
dc.contributor.authorSiqueira, LHpt_BR
dc.contributor.authorMachado, TMFpt_BR
dc.contributor.authorCastro, Vpt_BR
dc.contributor.authorGoncalves, MSpt_BR
dc.contributor.authorMenezes, RCpt_BR
dc.contributor.authorSoares, Mpt_BR
dc.contributor.authorAnnichino-Bizzacchi, JMpt_BR
dc.contributor.authorCosta, FFpt_BR
dc.contributor.authorArruda, VRpt_BR
unicamp.author.emailarruda@email.chop.edupt_BR
unicamp.authorUniv Penn, Sch Med, Childrens Hosp Philadelphia, Dept Pediat, Philadelphia, PA 19104 USA Evandro Chagas Inst, Belem, Para, Brazil Univ Fed Bahia, Dept Pharmacol, Salvador, BA, Brazil State Univ Campinas, Hematol & Hemotherapy Ctr, Sao Paulo, Brazilpt_BR
dc.subjectglycoprotein Ib alphapt_BR
dc.subjectpolymorphismpt_BR
dc.subjectplateletpt_BR
dc.subjectgenetic diversitypt_BR
dc.subject.wosKozak Sequence Polymorphismpt_BR
dc.subject.wosBernard-soulier-syndromept_BR
dc.subject.wosCoronary-artery Diseasept_BR
dc.subject.wosDistinct Ethnic-groupspt_BR
dc.subject.wosTandem Repeatspt_BR
dc.subject.wosMacroglycopeptide Regionpt_BR
dc.subject.wosVariable Numberpt_BR
dc.subject.wosAfrican-americanspt_BR
dc.subject.wosVenous Thrombosispt_BR
dc.subject.wosIschemic-strokept_BR
dc.description.abstractPlatelet membrane glycoprotein (GP) Ibalpha is a critical component of platelet adhesion complex to subendothelium structures following tissue injury or pathological surfaces, such as atherosclerotic plaques. Polymorphisms of the GPIbalpha 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 GPIba 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 (similar to40%) 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 GPIbalpha gene and may be useful in the design of gene-disease association studies for vascular disease. (C) 2004 Wiley-Liss, Inc.pt
dc.relation.ispartofAmerican Journal Of Hematologypt_BR
dc.relation.ispartofabbreviationAm. J. Hematol.pt_BR
dc.publisher.cityHobokenpt_BR
dc.publisher.countryEUApt_BR
dc.publisherWiley-lisspt_BR
dc.date.issued2004pt_BR
dc.date.monthofcirculationOCTpt_BR
dc.identifier.citationAmerican Journal Of Hematology. Wiley-liss, v. 77, n. 2, n. 107, n. 116, 2004.pt_BR
dc.language.isoenpt_BR
dc.description.volume77pt_BR
dc.description.issuenumber2pt_BR
dc.description.firstpage107pt_BR
dc.description.lastpage116pt_BR
dc.rightsfechadopt_BR
dc.rights.licensehttp://olabout.wiley.com/WileyCDA/Section/id-406071.htmlpt_BR
dc.sourceWeb of Sciencept_BR
dc.identifier.issn0361-8609pt_BR
dc.identifier.wosidWOS:000224108400001pt_BR
dc.identifier.doi10.1002/ajh.20148pt_BR
dc.date.available2014-11-13T15:23:52Z
dc.date.available2015-11-26T17:10:01Z-
dc.date.accessioned2014-11-13T15:23:52Z
dc.date.accessioned2015-11-26T17:10:01Z-
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dc.description.provenanceMade available in DSpace on 2015-11-26T17:10:01Z (GMT). No. of bitstreams: 2 WOS000224108400001.pdf: 292735 bytes, checksum: f34b58f8d197bcdce7e6a4bdb6dcd805 (MD5) WOS000224108400001.pdf.txt: 39089 bytes, checksum: df7e45cc8c35ef11f76d2588c97124df (MD5) Previous issue date: 2004en
dc.identifier.urihttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/67942pt_BR
dc.identifier.urihttp://www.repositorio.unicamp.br/handle/REPOSIP/67942
dc.identifier.urihttp://repositorio.unicamp.br/jspui/handle/REPOSIP/67942-
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