| Author | Ozelo, Margareth Castro | |
| Author | Costa, Devanira de Souza Paixão | |
| Author | Siqueira, Lucia Helena | |
| Author | Machado, Tania M F | |
| Author | Castro, Vagner | |
| Author | Gonçalves, Marilda de Souza | |
| Author | Menezes, Raimundo C | |
| Author | Soares, Manoel | |
| Author | Bizzacchi, Joyce M Annichino | |
| Author | Costa, Fernando F | |
| Author | Arruda, Valder Roberval | |
| Access date | 2017-06-12T16:12:55Z | |
| Available date | 2017-06-12T16:12:55Z | |
| Document date | 2004 | |
| Citation | OZELO, M. C. et al. Genetic variability of platelet glycoprotein Ibalpha gene. American Journal of Hematology, v. 77, p. 107–116, 2004. | pt_BR |
| ISSN | 0361-8609 | pt_BR |
| URI | https://www.arca.fiocruz.br/handle/icict/19369 | |
| Description | Gonçalves, Marilda de Souza “Documento produzido em parceria ou por autor vinculado à Fiocruz, mas não consta à informação no documento”. | pt_BR |
| Language | eng | pt_BR |
| Publisher | Wiley | pt_BR |
| Rights | open access | pt_BR |
| Subject in Portuguese | Glicoproteína Ib alfa | pt_BR |
| Subject in Portuguese | Polimorfismo | pt_BR |
| Subject in Portuguese | Plaquetas | pt_BR |
| Subject in Portuguese | Diversidade genética | pt_BR |
| Title | Genetic variability of platelet glycoprotein Ibalpha gene | pt_BR |
| Type | Article | pt_BR |
| DOI | 10.1002/ajh.20148 | |
| Abstract | Platelet 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 GPIbalpha 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 ( reverse similar 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 GPIbalpha gene and may be useful in the design of gene-disease association studies for vascular disease. | pt_BR |
| Affilliation | State University of Campinas. Hematology and Hemotherapy Center. Campinas, SP, Brazil | pt_BR |
| Affilliation | State University of Campinas. Hematology and Hemotherapy Center. Campinas, SP, Brazil | pt_BR |
| Affilliation | State University of Campinas. Hematology and Hemotherapy Center. Campinas, SP, Brazil | pt_BR |
| Affilliation | State University of Campinas. Hematology and Hemotherapy Center. Campinas, SP, Brazil | pt_BR |
| Affilliation | State University of Campinas. Hematology and Hemotherapy Center. Campinas, SP, Brazil | pt_BR |
| Affilliation | Federal University of Bahia. Department of Pharmacology. Salvador, BA, Brazil | pt_BR |
| Affilliation | Evandro Chagas Institute. Belém, PA, Brazil | pt_BR |
| Affilliation | Evandro Chagas Institute. Belém, PA, Brazil | pt_BR |
| Affilliation | State University of Campinas. Hematology and Hemotherapy Center. Campinas, SP, Brazil | pt_BR |
| Affilliation | State University of Campinas. Hematology and Hemotherapy Center. Campinas, SP, Brazil | pt_BR |
| Affilliation | University of Pennsylvania School of Medicine. The Children’s Hospital of Philadelphia. Department of Pediatrics. Philadelphia, Pennsylvania | pt_BR |
| Subject | Glycoprotein Ib alpha | pt_BR |
| Subject | Polymorphisms | pt_BR |
| Subject | Platelet | pt_BR |
| Subject | Genetic diversity | pt_BR |
| DeCS | Glicoproteína | pt_BR |
| DeCS | Polimorfismo | pt_BR |
| DeCS | Plaquetas | pt_BR |
| DeCS | Diversidade genética | pt_BR |
| xmlui.metadata.dc.subject.ods | 10 Redução das desigualdades | |
