Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/103756
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 K.
Lemos-Marini S.H.V.
Baptista M.T.M.
Bonadia L.C.
Pinto Jr. W.
Bertuzzo C.S.
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 (χ2 = 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. Copyright by the Brazilian of Genetics.
Editor: 
Rights: aberto
Identifier DOI: 10.1590/S1415-47572006000100008
Address: http://www.scopus.com/inward/record.url?eid=2-s2.0-33645039177&partnerID=40&md5=c84f3bf6ae8e54007fcbfb04dbce98de
Date Issue: 2006
Appears in Collections:Unicamp - Artigos e Outros Documentos

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