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MTHFR , prothrombin and Factor V gene variants in Turkish patients with coronary artery stenosis Genet. Mol. Biol.
Caner,Müge; Bircan,Rifat; Sevinç,Deniz; Benli,Fehime; Güney,A. Ilter; Kurtoglu,Nuri.
Many epidemiological studies have reported an association between hemostatic factors and risk of both coronary and peripheral artery diseases. Using polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) analysis, we investigated the association between coronary artery disease and polymorphisms in the methylenetetrahydrofolate reductase ( MTHFR C677T and A1298C), prothrombin (G20210A), and factor V (A4070G) genes. We screened these gene variants in 174 subjects who had undergone coronary angiography - 115 patients with patent coronary artery disease (grade 3 vessel disease, i.e. , significant coronary stenosis), and 59 healthy controls with grade 0 vessel disease. The analysis of our data did not show any statistically...
Palavras-chave: Genetic polymorphism; Coronary disease; MTHFR gene; Prothrombin gene; Factor V gene.
Ano: 2008 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572008000500006
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Frequency of 677C -> T and 1298A -> C polymorphisms in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene in Turner syndrome individuals Genet. Mol. Biol.
Santos,Kelly; Lemos-Marini,Sofia H.V.; Baptista,Maria T.M.; Bonadia,Luciana Cardoso; Pinto Júnior,Walter; Bertuzzo,Carmen Sílvia.
Turner syndrome (TS) is an interesting model for investigating the association between methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms and non-disjunction because of the high frequency of chromosomal mosaicism among patients with this syndrome. We determined the frequencies of MTHFR 677C -> T and 1298A -> C polymorphic mutations in 49 patients with TS and 200 control individuals. The frequency of the 677C -> T allele was 0.39 for patients and 0.29 for controls while that of the 1298A -> C allele was 0.28 for patients and 0.25 for controls. Genotype frequencies were shown to be different in patients and controls (chi2 = 12.143; p = 0.033), and this was attributable to the higher frequency of the C677C -> T /677C -> T...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Chromosomal non-disjunction; MTHFR gene; Turner syndrome.
Ano: 2006 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000100008
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