Polimorfismo nos genes metilenotetrahidrofolato redutase e cistationina-beta-sintase e a sua relação com eventos vaso-oclusivos na doença falciforme

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dc.contributor.authorJacob, Maza A. [UNESP]
dc.contributor.institutionUniversidade Estadual Paulista (Unesp)
dc.date.accessioned2014-05-27T11:23:56Z
dc.date.available2014-05-27T11:23:56Z
dc.date.issued2009-07-01
dc.description.abstractSickle cell disease is an inflammatory condition with a pathophysiology that involves vaso-occlusive episodes. Mutations of the methylenetetrahydrofolate reductase (MTHFR) and cystathionine beta-synthase (CBS) genes are risk factors for vascular disease. Due to the importance of identifying risk factors for vaso-occlusive events in sickle cell patients, we investigated the frequencies of the C677T and 844ins68 mutations of the MTHFR and CBS genes, respectively. Three hundred patients with Hb SS, HB SC and HbS/Beta thalassemia, from Brasília, Goiânia, Rio de Janeiro, São Jose do Rio Preto and São Paulo were evaluated. Samples of 5 mL of venous blood were collected in EDTA after informed consent was received from patients. Classical diagnostic methods were used to confirm the hemoglobin phenotypes. The hemoglobin genotypes and polymorphisms studied were evaluated by Restriction Fragment Length Polymorphism and Allele Specific amplification. The results showed that 93 patients (31.00%) were heterozygous and 13 (4.33%) homozygous for the C677T mutation and 90 were heterozygotes (30.00%) and 8 homozygous (2.66%) for the 844ins68 mutation, both with significant differences for genotype frequency between the localities. The allelic frequencies are in Hardy-Weinberg equilibrium for both polymorphisms. The frequency of mutations was significant and the presence of related vaso-occlusive events was more common in patients with Hb SS (p = 0007). The 844ins68 mutation was approximately three times more frequent in patients with vaso-occlusive complications (p = 0011). The C677T mutation did not prove to be associated with risk of vaso-occlusive events (p = 0.193). A C677T-844ins68 interaction occurred in 12.08% of the patients, doubling the risk of vaso-occlusive manifestations. The frequencies of the polymorphisms are consistent with those expected in the Brazilian population. The presence of the 844ins68 mutation of the CBS gene proved to be a potential risk factor for vaso-occlusive events in sickle cell patients.en
dc.description.affiliationLHGDH, Ibilce, Unesp, Rua Cristóvão Colombo, 2265 - Jardim Nazareth, 15054-000 - São José do Rio Preto-SP
dc.description.affiliationUnespLHGDH, Ibilce, Unesp, Rua Cristóvão Colombo, 2265 - Jardim Nazareth, 15054-000 - São José do Rio Preto-SP
dc.format.extent301-302
dc.identifierhttp://dx.doi.org/10.1590/S1516-84842009000400024
dc.identifier.citationRevista Brasileira de Hematologia e Hemoterapia, v. 31, n. 4, p. 301-302, 2009.
dc.identifier.doi10.1590/S1516-84842009000400024
dc.identifier.fileS1516-84842009000400024.pdf
dc.identifier.issn1516-8484
dc.identifier.scieloS1516-84842009000400024
dc.identifier.scopus2-s2.0-77952602489
dc.identifier.urihttp://hdl.handle.net/11449/71071
dc.language.isopor
dc.relation.isnodouble91615*
dc.relation.ispartofRevista Brasileira de Hematologia e Hemoterapia
dc.relation.ispartofsjr0,335
dc.rights.accessRightsAcesso aberto
dc.sourceScopus
dc.subjectCBS
dc.subjectMTHFR
dc.subjectPolymorphisms
dc.subjectSickle cell disease
dc.subjectVaso-occlusion
dc.titlePolimorfismo nos genes metilenotetrahidrofolato redutase e cistationina-beta-sintase e a sua relação com eventos vaso-oclusivos na doença falciformept
dc.title.alternativePolymorphism of the methylenetetrahydrofolate reductase and cystathionine-beta-synthase genes and their relationship to vaso-occlusive events in sickle cell diseaseen
dc.typeArtigo
dcterms.licensehttp://www.scielo.br/revistas/rbhh/paboutj.htm#03

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