Cell, Gene and Therapy Journal

Peer-reviewed multi-disciplinary and Open Access journal accepts scientifically rigorous research, regardless of novelty

Like : 0

Detecting of STK11 gene nucleotide polymorphisms of the germline in patients with Gastrointestinal cancers

Hosseini Seyed Jamal1, Nazemi Ali1, Hashemi Mehrdad*2, Miri Nargesi Mirsaed1, Sharirfi Sharashout1, Movafagh Abolfazl3,4
1 Department of Biology, The Islamic Azad University-Tonekabon, Iran.
2 Department of Molecular Genetics, Tehran Medical Branch, Islamic Azad University, Tehran, Iran.
3 Department of Medical Genetics, Cancer, Research Center, Shohada, Hospital, School of Medicine, Shahid Beheshti University of Medical Science, Tehran, Iran.
4 Cancer Research Center, Shohada, Hospital, School of Medicine, Shahid Beheshti University of Medical Science, Tehran, Iran.

Introduction: High resolution melting (HRM) analysis is a technique to measure the decrease of fluorescing, caused by a discharge of the dye, throughout the DNA thermal melting gradient process. STK11 gene encodes one of the cellular serine-threonine kinase proteins that regulate cellular polarity. It also acts as a tumor suppressor protein. Mutations of the germline in the gene are coincident with Peutz-Jeghers syndrome and the potential of developing a variety of neoplasia.
Method: In an experimental study, the genome DNA of 56 patients with digestive system cancer was extracted. Afterward, nucleotide changes over the gene were examined using Real-time PCR and High resolution melting (HRM).
Findings: Nucleotide screening using the HRM technique revealed two types of SNP in introns 6 & 7 in 10 patients. Four patients showed homozygous C/T nucleotide changes [cluster id/dsSNP/rs9282860] in intron 6 and six patients showed heterozygous C/G nucleotide changes [cluster id/dsSNP/rs2075607] in intron 7. A comparison of HRM results with sequencing results indicated 100% conformity.
Conclusion: Although no mutation was observed in exon section of the gene, primary screening of the STK11 gene to diagnose unknown nucleotide changes of germline and somatic in patients with neoplasia using HRM was feasible, easy, and cost-effective.

Keywords : STK11 gene, mutation of the germline, high resolution melting


Submit your comments