Mohd Amin Shah1, Sheikh M Shaffi1, Ghulam Nabi Lone2, Syed Mudassar Jan1. 1. Department of Clinical Biochemistry, Sher-i- Kashmir Institute of Medical Sciences, Soura, Srinagar, Kashmir, India-190011. 2. Department of Cardio-vascular and Thoracic surgery, Sher-i- Kashmir Institute of Medical Sciences, Soura, Srinagar, Kashmir, India-190011.
Abstract
OBJECTIVES: The aim of our investigation was to detect mutation or genetic polymorphisms in MGMT gene of esophageal cancer patients from Kashmir Valley (India). METHODOLOGY: The genetic polymorphisms or mutations in the coding exons 2, 3, 4 and 5 of MGMT gene were searched for in DNA samples from the frozen tumor tissues of 30 esophageal cancer patients from Kashmir. The PCR products were sequenced with fluorescently labelled terminators and separated on automatic sequencer. We developed a new PCR based RFLP approach for genotyping c.459A>G (p.Gly153Gly) variation in 71 esophageal cancer patients and 60 healthy controls. RESULTS: Two somatic variations c.274 +4G>A and c.274 + 22G>A were identified in Exon3-intron 4 boundary. A novel germline variation c.459A>G (p.Gly153Gly) was found in the exon 5 of an esophageal cancer patient. This germline variation was not found in any of the studied esophageal cancer patients and healthy controls except the patient where it has been found by direct sequencing. CONCLUSION: We identified novel sequence variants of the MGMT gene in esophageal cancer patients from Kashmir valley-India.
OBJECTIVES: The aim of our investigation was to detect mutation or genetic polymorphisms in MGMT gene of esophageal cancerpatients from Kashmir Valley (India). METHODOLOGY: The genetic polymorphisms or mutations in the coding exons 2, 3, 4 and 5 of MGMT gene were searched for in DNA samples from the frozen tumor tissues of 30 esophageal cancerpatients from Kashmir. The PCR products were sequenced with fluorescently labelled terminators and separated on automatic sequencer. We developed a new PCR based RFLP approach for genotyping c.459A>G (p.Gly153Gly) variation in 71 esophageal cancerpatients and 60 healthy controls. RESULTS: Two somatic variations c.274 +4G>A and c.274 + 22G>A were identified in Exon3-intron 4 boundary. A novel germline variation c.459A>G (p.Gly153Gly) was found in the exon 5 of an esophageal cancerpatient. This germline variation was not found in any of the studied esophageal cancerpatients and healthy controls except the patient where it has been found by direct sequencing. CONCLUSION: We identified novel sequence variants of the MGMT gene in esophageal cancerpatients from Kashmir valley-India.
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