Impact of MTHFR and RFC-1 gene in the development of neural tube defect

Neural tube defects (ntds) are complex problem of central nervous system including brain and spinalcord. anencephaly and myelomeningocele are the two most common forms of ntds. epidemiological studiesreveal that genetic and environmental factors are responsible for the development of ntds. duringembryogenesis large numbers of extrinsic and intrinsic factors are responsible for the closure of neural tubewhich is responsible to maintain the three germ layers including neural ectoderm. the role of mthfr andrfc-1 gene in etiopathology of ntds has not been clearly defined in indian population. hence, the curiosityhas been developed with the aim to evaluate folate metabolism and folate regulatory gene in clinicallydiagnosed ntds by using pcr based dna analysis with selected specific forward/reverse primers.interestingly, the highest frequency (12.5%) of ct has been appeared of mthfr c677t gene noticed inntds mother. we also observed the similar frequency of heterozygous ag genotype in ntds of a80g rfc-1gene. therefore, c and a allele have high prevalence among than other genotype. however, the mutation inmthfr partially have protective effect of embryo and these selected candidate folate markers are responsibleto influence the cells of neural crest confirming the folding of neural tube associated with severity of disease inntds.