GENETIC VARIATION AND MUTATIONAL DETERMINANTS OF RNASE L GENE IN GASTRIC CANCER PATIENTS

Abstract

Background: RNASE L acting as innate immune mediator have significant role in anti-pathogenic response.This present study is to identify RNASE and ANK domain mutation/s of RNASE L gene in gastric cancer patients.

Method: Total 120 blood samples were collected in this study and stratified as Gastric carcinoma patients, GC with H.pylori and H.pylori positive patients. After DNA extraction RNASE-L gene was amplified using PCR and gel-electrophoresis was performed.Amplified samples of RANSE-L were sent to Macrogen, Korea for sequencing. Sequencing results were analysed using Bio Edit and MEGA11 software.Mutations of RNASE-L gene in H pylori with gastric cancer were reported.

Result: Out of 120 collected blood samples, 5% were of GC, 50% of GC alongside with H pylori, and residual samples were of H-pylori positive individuals. Of these, 58.3% are men and 41.6% are women. Sequence examination revealed that only one sample had SNV (single nucleotides variant) G>A in domain of RNASE, and no any sample had SNV in domain ARD.

Conclusion: The study identified low frequency of genetic variation in RNASE L gene among gastric cancer patients in Pakistani population. Only a single detected synonymous mutation in RNase domain suggest that genetic mutations might not be common culprit behind gastric tumours in Pakistan.However, the study highlights potential role of host immune response genes Pylori infection and biological role of RNASE gene in gastric cancer.