MTHFR GENE POLYMORPHISM AMONG BHILS OF UDAIPUR, RAJASTHAN
Abstract
Methylenetetrahydrofolate reductase (MTHFR) ,an enzyme that in humans is encoded by the
MTHFR gene, has a crucial role in regulating cellular methylation, through the conversion of 5,10-
methyl-tetrahydrofolate(THF) to 5-methyl-THF, the methyle donor in the transformation of
homocysteine to methionine. Reduced MTHFR activity due to the C677T change has been
associated with different disorders, eg:, vascular disease, neural tube defects, Down’s syndrome and
preeclampsia and spontaneous abortions. Moreover, many studies have showed the association of
this polymorphism with the risk of colon, ovarian and breast cancer. The aim of the study is to screen
MTHFR C677T single nucleotide polymorphisms among Bhils of Udaipur, Rajasthan and to
compare our results with Indian and world populations. In present study a total number of 78
samples (both blood and buccal) were taken from randomly selected individuals (both males and
females, unrelated upto first cousins). DNA extraction from samples was done by using High Yeild
Genomic DNA extraction kit (Real Biotech Corporation) and Gentra Puregene Buccal Kit. Further
using other molecular techniques like PCR-RFLP using Hinf I and gel electrophoresis. In the present
study MTHFR gene is found to be polymorphic among the Bhils of Rajasthan with maximum number
of CC (92.31%) genotype followed by CT (6.41%) and least by TT (1.28%) genotype. The population
is not in the Hardy Weinberg Equilibrium with respect to the MTHFR polymorphism (P<0.05).
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