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

dc.contributorUniversidade Estadual Paulista (UNESP)
dc.creatorFranco, Rendrik
dc.creatorMaffei, Francisco Humberto de Abreu
dc.creatorLourenço, Dayse
dc.creatorPiccinato, Carlos
dc.creatorMorelli, Vânia
dc.creatorThomazini, Isolete
dc.creatorZago, Marco
dc.date2014-05-27T11:19:37Z
dc.date2016-10-25T18:15:18Z
dc.date2014-05-27T11:19:37Z
dc.date2016-10-25T18:15:18Z
dc.date1998-11-01
dc.date.accessioned2017-04-06T00:52:40Z
dc.date.available2017-04-06T00:52:40Z
dc.identifierHaematologica, v. 83, n. 11, p. 1006-1008, 1998.
dc.identifier0390-6078
dc.identifierhttp://hdl.handle.net/11449/65545
dc.identifierhttp://acervodigital.unesp.br/handle/11449/65545
dc.identifier2-s2.0-0032430230.pdf
dc.identifier2-s2.0-0032430230
dc.identifierhttp://www.haematologica.org/content/83/11/1006.long
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/887260
dc.descriptionBackground and Objectives. A frequent mutation in the cystathionine β- 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 CBS 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.
dc.languageeng
dc.relationHaematologica
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectCystathionine β-synthase
dc.subjectHomocysteine
dc.subjectInsertion variant
dc.subjectMutation
dc.subjectVenous thrombosis
dc.subjectadolescent
dc.subjectadult
dc.subjectallele
dc.subjectamino acid metabolism
dc.subjectchild
dc.subjectcontrolled study
dc.subjectenzyme activity
dc.subjectexon
dc.subjectfemale
dc.subjectgene frequency
dc.subjectgene insertion
dc.subjectgene mutation
dc.subjectgenetic risk
dc.subjectgenotype
dc.subjectheterozygosity
dc.subjecthomozygosity
dc.subjecthuman
dc.subjectmajor clinical study
dc.subjectmale
dc.subjectpolymerase chain reaction
dc.subjectprevalence
dc.subjectvein thrombosis
dc.subjectAdolescent
dc.subjectAdult
dc.subjectAlleles
dc.subjectAmino Acid Substitution
dc.subjectBrazil
dc.subjectChild
dc.subjectChild, Preschool
dc.subjectCodon
dc.subjectCystathionine beta-Synthase
dc.subjectDNA Mutational Analysis
dc.subjectExons
dc.subjectFemale
dc.subjectGene Frequency
dc.subjectGenetic Predisposition to Disease
dc.subjectHumans
dc.subjectInfant
dc.subjectMale
dc.subjectMiddle Aged
dc.subjectMutagenesis, Insertional
dc.subjectPoint Mutation
dc.subjectPolymerase Chain Reaction
dc.subjectRisk Factors
dc.subjectThrombophilia
dc.subjectVenous Thrombosis
dc.titleThe frequency of 844ins68 mutation in the cystathionine β-synthase gene is not increased in patients with venous thrombosis
dc.typeOtro


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