Splice site and Germline variations of the MGMT gene in Esophageal cancer from Kashmir Valley: India

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.

Key words: Esophageal cancer; Kashmiri population; MGMT; Splice site mutations; Germline variation

Shah, M. A., Shaffi, S. M., Lone, G. N., & Jan, S. M. (2013). Splice site and Germline variations of the MGMT gene in Esophageal cancer from Kashmir Valley: India. International Journal of Health Sciences, 7(3). Retrieved from https://pub.qu.edu.sa/index.php/journal/article/view/498
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Author Biographies

Mohd Amin Shah, Department of Clinical Biochemistry Sher-i-Kashmir Institute of Medical Sciences Soura Srinagar, kashmir, INDIA-190011

Senior Resident

Department of Clinical Biochemistry

Sheikh Mohd Shaffi, Department of Clinical Biochemistry Sher-i-Kashmir Institute of Medical Sciences Soura Srinagar, kashmir, INDIA-190011
Senior Resident
Ghulam Nabi Lone, Department of Cardiovascular and thoracic surgery Sher-i-Kashmir Institute of Medical Sciences Soura Srinagar, kashmir, INDIA-190011
Additional Professor
Syed Mudassar Jan
Additional Professor and Head

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