title: Splice site and Germline variations of the MGMT gene in Esophageal cancer from Kashmir Valley: India.
abstract: OBJECTIVE
  The aim of our investigation was to detect mutation or genetic polymorphisms in MGMT gene of esophageal cancer patients from Kashmir Valley (India).
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  We identified novel sequence variants of the MGMT gene in esophageal cancer patients from Kashmir valley-India.
authors.affiliation: Department of Clinical Biochemistry, Sher-i- Kashmir Institute of Medical Sciences, Soura, Srinagar, Kashmir, India-190011.
authors.forename: Mohd Amin
authors.initials: MA
authors.lastname: Shah
authors.affiliation: Department of Clinical Biochemistry, Sher-i- Kashmir Institute of Medical Sciences, Soura, Srinagar, Kashmir, India-190011.
authors.forename: Sheikh M
authors.initials: SM
authors.lastname: Shaffi
authors.affiliation: Department of Cardio-vascular and Thoracic surgery, Sher-i- Kashmir Institute of Medical Sciences, Soura, Srinagar, Kashmir, India-190011.
authors.forename: Ghulam Nabi
authors.initials: GN
authors.lastname: Lone
authors.affiliation: Department of Clinical Biochemistry, Sher-i- Kashmir Institute of Medical Sciences, Soura, Srinagar, Kashmir, India-190011.
authors.forename: Syed Mudassar
authors.initials: SM
authors.lastname: Jan
keywords: Esophageal cancer; Germline variation; Kashmiri population; MGMT; Splice site mutations