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The study of KCNE2 gene mutations in Iranian LQTS patients

تعداد صفحات: 1 | تعداد نمایش خلاصه: 95 | نظرات: 0
سال انتشار: 1398
کد COI Paper: BSIPD01_047
زبان Paper: Englishglish
نسخه کامل Paper در کنفرانس ارائه نشده است و در دسترس نیست.

مشخصات نویسندگان Paper The study of KCNE2 gene mutations in Iranian LQTS patients

Rambod norouzi - Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran
Radin Norouzi - Department of Biology, Faculty of Basic Science, Kharazmi University, Tehran, Iran
Nejat Mahdieh - Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran
Tahereh Foroutan - 4.Department of Biology, Faculty of Basic Science, Kharazmi University, Tehran, Iran
Mohammad Dalili - Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran
Mohammad Rafie Khorgami - Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran

چکیده Paper:

Introduction: Long QT syndrome is a type of ventricular arrhythmia that is commonly along with syncope, seizure or sudden cardiac death due to torsades de pointes. KCNE2 mutations cause MiRP1 dysfunctions, this protein as a beta subunit of hERG channel is important to create and passing IKr currentMaterials & Methods: we investigated the KCNE2 gene mutations in 20 Iranian LQTS patients referred to Shahid Rajaie cardiovascular hospital. DNA extraction from peripheral blood was performed, KCNE2 gene was amplified and direct sequencing was performed to identify possible mutationsResults: In this study, the number of affected males was higher (about 2 times). The symptoms seen in patients were syncope, notched T-wave and history of sudden cardiac death and LQTS in the family. heterozygous mutation at c.22A> G (p.Thr8Ala)was found in a three-year-old boy which reduces KCNE2-hERG channel activity by 15% and its pathogenicity has been reported as disease causing based on Mutation Taster predictionConclusion & discussion: KCNE2 gene variants have high incidence as the causal variants in Iranian patients with LQTS type 6 Also, it is suggested to investigate the pathogenicity of KCNE2 and other KCNE gene family in Iranian patients for genetic testing

کلیدواژه ها:

Long QT syndrome, KCNE2, mutations, Gene

کد Paper/لینک ثابت به این Paper

برای لینک دهی به این Paper می توانید از لینک زیر استفاده نمایید. این لینک همیشه ثابت است و به عنوان سند ثبت Paper در مرجع سیویلیکا مورد استفاده قرار میگیرد:

https://civilica.com/doc/981165/

کد COI Paper: BSIPD01_047

نحوه استناد به Paper:

در صورتی که می خواهید در اثر پژوهشی خود به این Paper ارجاع دهید، به سادگی می توانید از عبارت زیر در بخش منابع و مراجع استفاده نمایید:
undefined, undefined و undefined, undefined و undefined, undefined و undefined, undefined و undefined, undefined و undefined, undefined,1398,The study of KCNE2 gene mutations in Iranian LQTS patients,اولین همایش علوم پایه دربیماریهای ارثی کودکان,Tehran,,,https://civilica.com/doc/981165

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برای بار اول: (1398, norouzi, Rambod؛ Radin Norouzi و Nejat Mahdieh و Tahereh Foroutan و Mohammad Dalili و Mohammad Rafie Khorgami)
برای بار دوم به بعد: (1398, norouzi؛ Norouzi و Mahdieh و Foroutan و Dalili و Khorgami)
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