Genetic variability of platelet glycoprotein Ib alpha gene

dc.creatorOzelo, MC
dc.creatorCosta, DSP
dc.creatorSiqueira, LH
dc.creatorMachado, TMF
dc.creatorCastro, V
dc.creatorGoncalves, MS
dc.creatorMenezes, RC
dc.creatorSoares, M
dc.creatorAnnichino-Bizzacchi, JM
dc.creatorCosta, FF
dc.creatorArruda, VR
dc.date2004
dc.dateOCT
dc.date2014-11-13T15:23:52Z
dc.date2015-11-26T17:10:01Z
dc.date2014-11-13T15:23:52Z
dc.date2015-11-26T17:10:01Z
dc.date.accessioned2018-03-28T23:58:38Z
dc.date.available2018-03-28T23:58:38Z
dc.identifierAmerican Journal Of Hematology. Wiley-liss, v. 77, n. 2, n. 107, n. 116, 2004.
dc.identifier0361-8609
dc.identifierWOS:000224108400001
dc.identifier10.1002/ajh.20148
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/67942
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/67942
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/67942
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1280764
dc.descriptionPlatelet 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.
dc.description77
dc.description2
dc.description107
dc.description116
dc.languageen
dc.publisherWiley-liss
dc.publisherHoboken
dc.publisherEUA
dc.relationAmerican Journal Of Hematology
dc.relationAm. J. Hematol.
dc.rightsfechado
dc.rightshttp://olabout.wiley.com/WileyCDA/Section/id-406071.html
dc.sourceWeb of Science
dc.subjectglycoprotein Ib alpha
dc.subjectpolymorphism
dc.subjectplatelet
dc.subjectgenetic diversity
dc.subjectKozak Sequence Polymorphism
dc.subjectBernard-soulier-syndrome
dc.subjectCoronary-artery Disease
dc.subjectDistinct Ethnic-groups
dc.subjectTandem Repeats
dc.subjectMacroglycopeptide Region
dc.subjectVariable Number
dc.subjectAfrican-americans
dc.subjectVenous Thrombosis
dc.subjectIschemic-stroke
dc.titleGenetic variability of platelet glycoprotein Ib alpha gene
dc.typeArtículos de revistas


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