MTHFR C677T and A1298C polymorphisms are risk factors for Down's syndrome in Indian mothers

@article{Rai2006MTHFRCA,
  title={MTHFR C677T and A1298C polymorphisms are risk factors for Down's syndrome in Indian mothers},
  author={Amit Kumar Rai and Satya Narayan Singh and Stuti Mehta and Ashok Kumar and Laxmi Pandey and R. Raja Raman},
  journal={Journal of Human Genetics},
  year={2006},
  volume={51},
  pages={278-283}
}
AbstractDown's syndrome (DS), a chromosomal disorder due to trisomy 21, results mostly from nondisjunction in maternal meiosis. The present case-control study examined the association of genetic polymorphisms with predisposition to nondisjunction. Two common polymorphisms (SNPs), C677T and A1298C, in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene involved in folate metabolism, are known to lower the activity of this enzyme. Three hundred and fourteen mothers (with DS children and… CONTINUE READING
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