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2016 | 53 | 3 | 253-274
Article title

Detection of C677T & A1298C mutations within the MTHFR gene by PCR and RFLP assays and assessment of risk factor of Hyperhomocysteinemia

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The MTHFR gene within the human genome, codes for the synthesis of Methylenetetrahydrofolate Reductase enzyme, which reduces 5,10-Methylenetetrahydrofolate to 5-Methyltetrahydrofolate, which in turn, is the major circulatory form of folate in the blood. Folate, in this form, among it’s other functions, is involved in reducing the homocysteine levels in the blood, whose elevated levels lead to Hyperhomocysteinemia, causing various major disorders. Mutations within the gene lead to impairment of gene function, in turn causing the homocysteine levels to rise. The C677T and A1298C mutations are the main causative agents for MTHFR gene disruption. During the course of the project, a total of 79 samples were analyzed for the presence of these mutations. The blood samples were first subjected to PCR, giving two separate DNA fragments each responsible for either of the conditions. The fragments were then subjected to RFLP analysis to detect the mutations. The results were finally given with respect to the risk factor faced by each individual based on a molecular diagnostic point of view.
Physical description
  • Marine Biological Resources Division, National Aquatic Resources and Development Agency (NARA), No15, Crow Island, Colombo 15, Sri Lanka
  • Genetech Molecular Diagnostics and School of Gene Technology, Colombo, Sri Lanka
  • [1] Arruda, VR, et al. The mutation Ala677. Val in the Methylene Tetrahydro Folate Reductase gene: a risk factor for arterial disease and venous thrombosis. Thrombosis and Haemostasis 77(5) (1997).
  • [2] Botto, LD and Yang, Q. 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies. A HuGE review. American Journal of Epidemiology 151(9), (2000).
  • [3] Seligsohn, U and Lubetsky, A. Genetic susceptibility to venous trombosis. The New England Journal of Medicine 344(16), 2001.
  • [4] Van der Put NM, Gabreels F, Stevens EM, et al, “A Second Common Mutation in the Methylenetetrahydrofolate Reductase Gene: An Additional Risk Factor for Neural Tube Defects”. Am J Hum Genet 62(5) (1990) 1044-51.
  • [5] Reports submitted by the World Health Organization, the American Heart Association and the Alzheimer’s Society of UK.
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