Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/34334
Type: Artigo de periódico
Title: Frequency of 677C -> T and 1298A -> C polymorphisms in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene in Turner syndrome individuals
Author: Santos, Kelly
Lemos-Marini, Sofia H.V.
Baptista, Maria T.M.
Bonadia, Luciana Cardoso
Pinto Júnior, Walter
Bertuzzo, Carmen Sílvia
Abstract: 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 genotype among TS patients. In homozygotes, this mutation might have an effect on somatic chromosome disjunction by decreasing MTHFR activity.
Subject: chromosomal non-disjunction
MTHFR gene
Turner syndrome
Editor: Sociedade Brasileira de Genética
Rights: aberto
Identifier DOI: 10.1590/S1415-47572006000100008
Address: http://dx.doi.org/10.1590/S1415-47572006000100008
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000100008
Date Issue: 1-Jan-2006
Appears in Collections:Artigos e Materiais de Revistas Científicas - Unicamp

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