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Original Article

Methylenetetrahydrofolate Reductase C677T and A1298C Polymorphisms and Risk of Down Syndrome

Kyu Young Chae, Jin Hee Han, Ji Yeong Seo, Min Jung Cho, Sehyun Kim, Nam Keun Kim

Clin Exp Pediatr. 2004;47(10):1053-1057. Published online October 15, 2004

Purpose : The C677T polymorphism of the methylenetetrahydrofolate reductase(MTHFR) has been suggested as a risk factor of maternal meiotic nondisjunction for Down syndrome. Recently, a second genetic polymorphism in MTHFR at position 1298 was reported. However, a positive association between the A1298C MTHFR polymorphism and Down syndrome has not been reported. Therefore, this study was undertaken to determine which polymorphism...

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