Analysis of occurrence of MTRR gene polymorphism in Down syndrome and other intellectually disabled children

The 5-methylenetetrahydrofolate homocysteine methyltransferase reductase (MTRR) is a key enzyme involved in folate metabolism. Defect in folate metabolism can lead to abnormal DNA synthesis, repair and methylation which lead to abnormal DNA replication and segregation. The most common polymorphism of MTRR genec.66A > G was analyzed in 30 Down syndrome (DS), 30 intellectually disabled (ID) and 60 control children of Gujarat using PCR-RFLP. The results of the present study revealed negative association between MTRR c.66A > G and DS using all genetic models except recessive model. Significant positive association was observed between MTRR c.66A > G and ID by using dominant, co-dominant and recessive models.