Please use this identifier to cite or link to this item:
|Type:||Artigo de periódico|
|Title:||Methylenetetrahydrofolate reductase gene polymorphisms and their association with trisomy 21|
|Abstract:||Objectives To verify whether the frequencies of 5,10-methylenotetrahydrofolate reductase (MTHFR) polymorphisms at positions 677 and 1298 are higher in women with children affected by trisomy 21 than in those with chromosomally normal offspring. Methods A case-control study was carried out with 70 women whose children had trisomy 21 and 88 controls whose children were chromosomally normal. The frequencies of poly morph isms of points C677T and A1298C of MTHFR gene coding were studied in these two groups. Odds ratios (OR) for having a child affected by trisomy 21 were estimated for homozygosis, heterozygosis or the absence of the above-mentioned MTHFR polymorphisms. Logistic regression models were used to control for the effect of confounding variables on these odds ratios. Results The frequency of joint heterozygotic polymorphism (677 and 1298) was significantly higher in women with children affected by trisomy 21 than in those with chromosomally normal offspring (OR: 5.7). Conclusions The presence of joint heterozygotic polymorphism in the codifying gene for MTHFR was a risk factor for having a child with trisomy 21. Copyright (C) 2005 John Wiley & Sons, Ltd.|
|Editor:||John Wiley & Sons Ltd|
|Appears in Collections:||Artigos e Materiais de Revistas Científicas - Unicamp|
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.