https://repositorio.ufba.br/handle/ri/14277
Tipo: | Artigo de Periódico |
Título: | Genetic variability of platelet glycoprotein Ibα gene |
Título(s) alternativo(s): | American Journal of Hematology |
Autor(es): | 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 |
Autor(es): | 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 |
Abstract: | Platelet 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. |
Palavras-chave: | Glycoprotein Ib alpha Polymorphism Platelet Genetic diversity |
Tipo de Acesso: | Acesso Aberto |
URI: | http://repositorio.ufba.br/ri/handle/ri/14277 |
Data do documento: | 2004 |
Aparece nas coleções: | Artigo Publicado em Periódico (Faculdade de Medicina) |
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Marilda S. Gonçalves.pdf | 285,87 kB | Adobe PDF | Visualizar/Abrir |
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