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

Mohd Amin Shah, Sheikh M Shaffi, Ghulam Nabi Lone, Syed Mudassar Jan

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Article in International journal of health sciences, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 authors at 1 institution in 1 country.

Mohd Amin ShahDepartment of Clinical Biochemistry, Sher-i- Kashmir Institute of Medical Sciences, Soura, Srinagar, Kashmir, India-190011.

Sheikh M ShaffiDepartment of Clinical Biochemistry, Sher-i- Kashmir Institute of Medical Sciences, Soura, Srinagar, Kashmir, India-190011.

Ghulam Nabi LoneDepartment of Cardio-vascular and Thoracic surgery, Sher-i- Kashmir Institute of Medical Sciences, Soura, Srinagar, Kashmir, India-190011.

Syed Mudassar JanDepartment of Clinical Biochemistry, Sher-i- Kashmir Institute of Medical Sciences, Soura, Srinagar, Kashmir, India-190011.

Sher-i-Kashmir Institute of Medical Sciences · IN

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6 · The paper itself

Abstract

objectivesThe 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.

resultsTwo 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.

conclusionWe identified novel sequence variants of the MGMT gene in esophageal cancer patients from Kashmir valley-India.

Indexed as

Esophageal cancerGermline variationKashmiri populationMGMTSplice site mutations

Identifiers

PMID24533020

PMCPMC3921056

OpenAlexW2015064485

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