تجزیه و تحلیل پلی مورفیسم در ژن های متابولیسم فولات و تاثیر آن بر سندرم داون و سایر اختلالات فکری

Folate is one of the B vitamins and essential for cellular functioning because it donates one‑carbon for de novo purine and pyrimidine synthesis, required for DNA synthesis and repair. Deficiency or mutation in one of the cofactor or enzyme involved in folate/homocysteine metabolism may leads to DNA hypomethylation, abnormal DNA synthesis, DNA strand breakage, impaired DNA repair and neurological damages as well as abnormal chromosomal segregation and chromosomal breaks. MTR, MTHFD1 and CBS are the key enzymes involved in the folate/homocysteine metabolism. The present study analyzed the risk association of MTR A2756G, MTHFD1 G1958A and CBS 844ins68 in the Down syndrome and other intellectually disabled children from Gujarat, using PCR/PCR-RFLP technique. The results of the present study revealed the significant association between MTR A2756G polymorphism and risk for intellectual disability. The significant negative associations were observed among MTR A2756G or MTHFD1 G1958A polymorphisms and Down syndrome. The CBS ins +/ins + genotype showed 4.09 fold increased risk of intellectual disability.