MTHFR C677T GENE MUTATION ASSOCIATED WITH SEVERE RISK FOR MENTAL RETARDATION IN CHILDREN
Journal Title: International Journal of Genetics - Year 2011, Vol 3, Issue 2
Abstract
MTHFR gene polymorphism regulate folate metabolism, required for normal development of central nervous system and any error in metabolism either due to hereditary or sporadic gene mutation in the family lead to the development of mental retardation in heterozygous condition. In the present study the five families having severe congenital mental retardation was evaluated for C677T genotype variations i.e. CC, CT & TT in probands, mother & father using PCR-RFLP analysis. Highest frequency (60%) was observed in heterozygous condition in the mother of proband. Statistical analysis showing significant difference (p=0.024) were observed in the father of the proband. Interestingly, the insertion of 68bp of CβS gene mutation was also observed in father of one family suggesting paternal or maternal factors influencing for severe mental retardation in children of consanguineous families as an independent risk factor. However, the high degree of genetic heterogeneity is quite striking because of severe mutation in two families. The pedigree analysis showing that the severity of disease transmission probably due to the penetrance of gene and their mode of inheritance is autosomal recessive in nature.
Authors and Affiliations
AJIT KUMAR SAXENA
Keywords
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- EP ID EP170156
- DOI 10.9735/0975-2862.3.2.47-49
- Views 90
- Downloads 0
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