Methionine synthase (MTR) 2756 (A --> G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia are three risk factors for having a child with Down syndrome.

doi:10.1002/ajmg.a.20234

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Methionine synthase (MTR) 2756 (A --> G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia are three risk factors for having a child with Down syndrome.

American journal of medical genetics. Part A - 1 Sept 2003

Bosco Paolo, Guéant-Rodriguez Rosa-Maria, Anello Guido, Barone Concetta, Namour Farès, Caraci Filippo, Romano Antonino, Romano Corrado, Guéant Jean-Louis

Abstract excerpt

Contradictory findings have been recently published on the evaluation of genetic polymorphisms of methylenetetrahydrofolate reductase (MTHFR 677 C-->T) and methionine synthase reductase (MTRR 66 A-->G) as risk factors for having a child with Down syndrome (DS); however, the influence of polymorphisms of methionine synthase (MTR 2756 A-->G) and of MTHFR 1298 A-->C has never been evaluated. In this study, the risk...

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PMID: 12923861
DOI: 10.1002/ajmg.a.20234

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MTR
MTHFR
MTRR

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