Prevalence of MTHFR C677T polymorphism in north Indian mothers having babies with Trisomy 21 Down syndrome

Recent studies have evaluated possible links between polymorphisms in maternal folate metabolism genes and Down syndrome. Some of these studies show a significantly increased prevalence of the C677T polymorphism of the 5,10-methylene tetrahydrofolate reductase (NADPH ) gene (MTH FR) among mothers who have had babies with Down syndrome. This study by Kohli and colleagues examined the prevalence of the MTH FR C677T polymorphism among 104 north Indian mothers of babies with Down syndrome and 109 control mothers. Full article available at: www.down-syndrome.org/reports/2004