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Frequency of 677C -> T and 1298A -> C polymorphisms in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene in Turner syndrome individuals

Author(s): Kelly Santos | Sofia H.V. Lemos-Marini | Maria T.M. Baptista | Luciana Cardoso Bonadia | Walter Pinto Júnior | Carmen Sílvia Bertuzzo

Journal: Genetics and Molecular Biology
ISSN 1415-4757

Volume: 29;
Issue: 1;
Start page: 41;
Date: 2006;
Original page

Keywords: chromosomal non-disjunction | MTHFR gene | Turner syndrome

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.

Tango Jona
Tangokurs Rapperswil-Jona

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