The frequency of 844ins68 mutation in the cystathionine beta-synthase gene is not increased in patients with venous thrombosis

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dc.contributor.author Franco, Rendrik
dc.contributor.author Maffei, Francisco Humberto de Abreu [UNIFESP]
dc.contributor.author Lourenco, Dayse Maria [UNIFESP]
dc.contributor.author Piccinato, Carlos
dc.contributor.author Morelli, Vania Maris [UNIFESP]
dc.contributor.author Thomazini, Isolete
dc.contributor.author Zago, Marco
dc.date.accessioned 2018-06-15T17:30:22Z
dc.date.available 2018-06-15T17:30:22Z
dc.date.issued 1998-11-01
dc.identifier http://www.haematologica.org/content/83/11/1006
dc.identifier.citation Haematologica. Pavia: Ferrata Storti Foundation, v. 83, n. 11, p. 1006-1008, 1998.
dc.identifier.issn 0390-6078
dc.identifier.uri http://repositorio.unifesp.br/11600/43734
dc.description.abstract Background and Objectives. A frequent mutation in the cystathionine beta-synthase (CBS) gene (844ins68, a 68-bp insertion in the coding region of exon 8) was recently discovered. In the present study we Investigated this mutation as a candidate risk factor for venous thrombosis.Design and Methods. The prevalence of the 844ins68 CBS mutation was determined in 101 patients with objectively diagnosed deep venous thrombosis and in 101 healthy controls matched for age, sex and race. PCR amplification of a DNA fragment containing exon 8 of the CBS gene was employed to determine the genotypes, Additionally, Bsrl restriction enzyme digestion of the PCR products was performed in all samples from carriers of the insertion, to test for concurrent presence of a second mutation (T833C) in the CBS gene.Results. The insertion was found in 21 out of 101 patients (20.8%; allele frequency 0.109) and in 20 out of 101 controls (19.8%; allele frequency 0.114), yielding a relative risk for venous thrombosis related to the 844ins68 CBS mutation close to 1.0. In addition, the T833C GBS mutation was detected in all alleles carrying the 844ins68 CBS insertion, confirming the co-inheritance of the two mutations.Interpretation and Conclusions. Our findings do not support the hypothesis that the 844ins68 mutation in the CBS gene is a genetic risk factor for venous thrombosis. (C)1998, Ferrata Storti Foundation. en
dc.format.extent 1006-1008
dc.language.iso eng
dc.publisher Ferrata Storti Foundation
dc.relation.ispartof Haematologica
dc.rights Acesso aberto
dc.subject cystathionine beta-synthase en
dc.subject homocysteine en
dc.subject insertion variant en
dc.subject mutation en
dc.subject venous thrombosis en
dc.title The frequency of 844ins68 mutation in the cystathionine beta-synthase gene is not increased in patients with venous thrombosis en
dc.type Artigo
dc.contributor.institution Universidade de São Paulo (USP)
dc.contributor.institution FUNDHERP
dc.contributor.institution Universidade Federal de São Paulo (UNIFESP)
dc.description.affiliation Univ Sao Paulo, Sch Med, Dept Clin Med, BR-14048900 Ribeirao Preto, Brazil
dc.description.affiliation Univ Sao Paulo, Sch Med, Dept Vasc Surg, BR-14048900 Ribeirao Preto, Brazil
dc.description.affiliation FUNDHERP, Blood Ctr Ribeirao Preto, Ribeirao Preto, Brazil
dc.description.affiliation UNESP, Sch Med Botucatu, Dept Vasc Surg, Botucatu, SP, Brazil
dc.description.affiliation UNIFESP, Dept Hematol, Sao Paulo, Brazil
dc.description.affiliationUnifesp UNIFESP, Dept Hematol, Sao Paulo, Brazil
dc.description.source Web of Science
dc.identifier.wos WOS:000077257000011



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