Molecular and Genetic Medicine

Amit Rai

Publications

• Research Article
  Association of Genetic Polymorphisms in Genes Involved at the Branch Point of Nucleotide Biosynthesis and Remethylation with Down Syndrome Birth Risk: A Case-Control Study
  Author(s): Amit Rai, Sushil Kumar Jaiswal, Krishna Kishore Sukla, Shravan Kumar Mishra, Anjali Rani Lakhotia and Ashok KumarAmit Rai, Sushil Kumar Jaiswal, Krishna Kishore Sukla, Shravan Kumar Mishra, Anjali Rani Lakhotia and Ashok Kumar
  
  DNA methylation and nucleic acid biosynthesis are two crucial phenomena for normal chromosomes segregation. From our earlier studies, MTHFR 677T individually and in combination with other gene polymorphisms, micronutrient deficiency and hyperhomocysteinemia was shown to be associated with risk in Down syndrome (DS) mothers. Remethylation and nucleic acid biosynthesis pathways are dependent on the activity of Methylenetetrahydrofolate reductase (MTHFR) and Thymidylate synthase (TYMS) respectively, competing for common substrate molecule 5,10-methelenetetrahydrofolate (5,10-MTHF). Role of MTHFD1 1958 G>A (affecting synthesis of 5,10-MTHF), MTHFR 677 C>T (affecting methylation), TYMS 5'UTR 28 bp repeat polymorphism and TYMS 3'UTR 6bp deletion polymorphism (affecting nucleic acid biosynthesis) in a cohort of 200 case mothers and 187 control mothers (also 146 case triads: mot.. Read More»
  

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