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Eur J Hum Genet. 2002 Jun;10(6):388-90.

C677T mutation in the 5,10-MTHFR gene and risk of Down syndrome in Italy.

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Dipartimento di Scienze Biomediche, Sezione di Genetica Medica, Università 'G. D'Annunzio', Chieti, Italy.


The C677T polymorphism of the MTHFR gene has been associated to maternal risk of Down syndrome, due to the detection of an higher prevalence of the T allele among mothers of children with trisomy 21, compared to control mothers. In order to confirm this association, we studied the presence of the C677T in 64 mothers of Down syndrome children and 112 controls from central Italy. An higher incidence of the mutant T allele in controls (48.2%) than in Down syndrome children mothers (44%) was detected. These results do not support the presence of an increased risk of Down syndrome in mothers carriers of the T allele in the Italian population.

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