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Molecular Genetic Analysis of Maternal Inherited Diabetes with Deafness Associated Point Mutation A3243g in Puducherry

Author(s): R.R.Kumar, AmirthaVarshini.M.J, Biswajit Mohanty

The A3243G mutation of mitochondrial DNA (mtDNA) is main contributing factor for many common diseases, including diabetes mellitus and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS). In this study we aimed to understand the association between A3243G mutations with maternal inherited diabetes with deafness using Allele specific tetra ARMS PCR technique. In this study, we collected the blood samples from normal human and medically diagnosed diabetic subjects with maternal history.Allele-specific Tetra ARMS PCR for the A3243G mutation was performed in the presence of two sets newly designed primers.A successful PCR product with a single 475bp from wild condition was obtained and two bands at 475bp and 275bp were observed from mutant condition. To validate the results, we also conducted DNA sequencing for both the samples. The sequenced data is compared using bioinformatics tools and it is 100% matched with PCR results. We suggest that ARMS PCR method will be considered to be suitable candidate to diagnose the mutation responsible for maternally inherited diabetes with deafness.

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