Physiology and Pharmacology

en Lack of association between coding region of KCNE2 gene and the congenital long QT syndrome in an Iranian population Cell, Stem Cell and Cancer Cell, Stem Cell and Cancer Experimental research article Experimental research article Introduction: Congenital long QT syndrome (LQTS) is a cardiac disorder characterized by QT interval prolongation at basal ECG. Different LQTS genes encode ion channel subunits or proteins involved in regulating cardiac ionic currents. Long QT syndrome type 6 (LQT6) is caused by mutation in the KCNE2 gene. Our research aimed to analyze genetic variants of KCNE2 gene causing the disease in Iranian population. Methods: Twenty nine patients consented for participation in the study. They were diagnosed based on Schwartz's criteria. After DNA extraction from peripheral blood cells, two exons of the KCNE2 gene were amplified. Afterwards, PCR-SSCP was carried out for screening the possible mutated gene variants. As the last verification step, direct sequencing was done to determine the sequence. Results: All samples were detected by PCR-SSCP and sequenced. None of the patients had the mutation in the KCNE2 gene. Conclusion: Investigating a genetic variant associated with LQTS, in Iranian patients clinically diagnosed with LQT6, no association was found between the disease and KCNE2 gene. Other previously identified genes, especially the major genes, should be considered for further investigation. KCNE2 gene, Long QT syndrome, Polymorphism, Single-stranded conformational 172 178 http://ppj.phypha.ir/browse.php?a_code=A-10-915-1&slc_lang=en&sid=1 Pedram Torabian pedram_torabian@yahoo.com 3200319475328460016692 3200319475328460016692 No Student Research Committee, Golestan University of Medical Sciences, Gorgan, Iran Ayyoob Khosravi khosravia@goums.ac.ir 3200319475328460016693 3200319475328460016693 No Student Research Committee, Golestan University of Medical Sciences, Gorgan, Iran Mehdi Gholizadeh mehdi2ghde@yahoo.com 3200319475328460016694 3200319475328460016694 No Student Research Committee, Golestan University of Medical Sciences, Gorgan, Iran Mehdi Zahedi dr_zahedi@hotmail.com 3200319475328460016695 3200319475328460016695 No Ischemic Disorders Research Center, Golestan University of Medical Sciences, Gorgan, Iran Majid Haghjoo majid.haghjoo@gmail.com 3200319475328460016696 3200319475328460016696 No Shahid Rajaei Cardiovascular, Medical and Research Center Echocardiography Research Center, Tehran University of Medical Sciences, Tehran, Iran Morteza Oladnabi oladnabidozin@yahoo.com 3200319475328460016697 3200319475328460016697 No Department of Human Genetics, School of Advanced Technologies in Medicine, Golestan University of Medical Sciences, Gorgan, Iran Yahya Jand 3200319475328460016698 3200319475328460016698 No Ischemic Disorders Research Center, Golestan University of Medical Sciences, Gorgan, Iran Vahid Khori dr.khoori@goums.ac.ir 3200319475328460016699 3200319475328460016699 Yes Ischemic Disorders Research Center, Golestan University of Medical Sciences, Gorgan, Iran