Journal of
Medical Genetics and Genomics

  • Abbreviation: J. Med. Genet. Genomics
  • Language: English
  • ISSN: 2141-2278
  • DOI: 10.5897/JMGG
  • Start Year: 2009
  • Published Articles: 48

Full Length Research Paper

Evaluation of methylenetetrahydrofolate reductase C677T gene polymorphism associated risk factor in the patients of recurrent pregnancy loss

Ajit K Saxena*, S Pandey and LK Pandey
Centre of Experimental Medicine and Surgery, Department of Obstetrics and Gynecology, Institute of Medical Sciences, BHU Varanasi-221005, India.
Email: [email protected]

  •  Accepted: 19 January 2012
  •  Published: 31 March 2012


The etiology of human recurrent fetal loss is associated with methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism. Several conflicting reports on MTHFR gene polymorphism increases the curiosity, with the aims to evaluate the prevalence of MTHFR gene in recurrent miscarriage cases using PCR-RFLP analysis. The present findings reveal that the highest (26.7%) incidence was observed in heterozygote (CT) cases when compared with controls (24.0%). The individual alleles (T) frequency (0.13%) was also calculated by Hardy Weinberg equilibrium showing lack of significant differences (p<0.05). Biochemical analysis showed slight variation between homocysteine (17.02±14.64 µmol/l) and folates (16.76±8.48 ng/ml). Cytogenetic study showed chromosomal association between D and G – groups, while karyotype of one case is mosaic and was also observed. However, the calculated O.R. (1.15) suggests that “risk factor” increased to confirm that genotypic variants of MTHFR C677T gene polymorphism are responsible for fetal viability.


Key words: Methylenetetrahydrofolate reductase, fetal loss, chromosome association.