학술논문
사람의 KCNE1 유전자 발현에 관한 연구 / Cloning and Expression of human KCNE1 Gene
Document Type
Dissertation/ Thesis
Source
Subject
Language
Korean
Abstract
KCNE1은 QT 연장증후군의 원인 유전자 중 하나이다. KCNE1 유전자는 21번 염색체에 위치한다. 이 유전자에 의해 생산되는 단백질들은 K⁺을 세포밖으로 운반하는 통로(channel)의 형성에 중요한 역할을 한다. K⁺이온이 이 통로를 통하여 이동하는 것은 심장 근육의 정상 기능을 유지하는데 중요하다. 이러한 기능 장애가 생기면 심장 근육의 재분극(repolarization)이 지연되고 부정맥(심실 빈맥, 심실 세동, 심정지 등)을 일으킴으로서 심장 질환을 야기시킨다. KCNE1 유전자를 PCR 증폭시킨 결과 약 414 bp 크기의 밴드가 확인되었다. 증폭된 KCNE1 유전자를 pGEX-4T-1 plasmid에 ligation하였고 IPTG를 첨가하여 단백질 잘현을 유도하였다. 결과는 SDS-PAGE로 전기영동하여 확인하였고 약 47 kDa의 분자량을 갖는 선명한 단백질 band가 관찰되었다. 본 연구는 KCNE1 유전자의 생리적 기능을 보다 구체적으로 이해하고, QT 연장증후군 치료를 위한 진단 기술 개발에 응용될 수 있을 것으로 기대된다.
KCNE1 is the causal gene of long QT syndrome. KCNE1 gene is located in chromosome 21. In compliance with this KCNE1 gene the proteins come out. KCNE1 is responsible for K⁺ channel which maintains the normal function of the heart muscle for contraction. Affected individuals manifest prolongation of the QT interval on electrocardi-ongrams, a sign of abnormal cardiac repolarization. The clinical features of LQT result from episodic cardiac arrhythmias, such as torsade de pointes and ventricular fibrllation. Blood DNA was isolated and kept in 4℃ refrigerator. The KCNE1 gene was amplified by PCR method and about 414 bp band was identified by agarose gel electrophoresis. PCR products were inserted into pGEX-4T-1 vector in order to express KCNE1 protein. after treatment with IPTG SDS-PAGE was carried out and the protein band which was about 47 kDa was clearly odserved. Results of this study would contribute to the detailed understandi- ng of KCNE1 protein function and to designing better treatment of Long QT symdrome.
KCNE1 is the causal gene of long QT syndrome. KCNE1 gene is located in chromosome 21. In compliance with this KCNE1 gene the proteins come out. KCNE1 is responsible for K⁺ channel which maintains the normal function of the heart muscle for contraction. Affected individuals manifest prolongation of the QT interval on electrocardi-ongrams, a sign of abnormal cardiac repolarization. The clinical features of LQT result from episodic cardiac arrhythmias, such as torsade de pointes and ventricular fibrllation. Blood DNA was isolated and kept in 4℃ refrigerator. The KCNE1 gene was amplified by PCR method and about 414 bp band was identified by agarose gel electrophoresis. PCR products were inserted into pGEX-4T-1 vector in order to express KCNE1 protein. after treatment with IPTG SDS-PAGE was carried out and the protein band which was about 47 kDa was clearly odserved. Results of this study would contribute to the detailed understandi- ng of KCNE1 protein function and to designing better treatment of Long QT symdrome.