The biochemical structure and function of methylenetetrahydrofolate reductase provide the rationale to interpret the epidemiological results on the risk for infants with Down syndrome.

@article{Martinezfrias2008TheBS,
  title={The biochemical structure and function of methylenetetrahydrofolate reductase provide the rationale to interpret the epidemiological results on the risk for infants with Down syndrome.},
  author={M L Martinez-frias},
  journal={American journal of medical genetics. Part A},
  year={2008},
  volume={146A 11},
  pages={1477-82}
}
Studies on the structure of the methylenetetrahydrofolate reductase (MTHFR) gene and the mechanisms by which folate may reduce homocysteine levels in bacteria and in humans have provided a rationale to understand the conflicting epidemiological observations between the studies on the 677C-T and 1298A-C MTHFR polymorphic variants, and the risk of having an infant with Down syndrome (DS). However, three of the combined genotypes (CTCC, TTAC, and TTCC) are very infrequent in the human population… CONTINUE READING

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