Long QT 증후군 한국인 환자의 분자유전학적 특성
- Affiliated Author(s)
- 김윤년; 한성욱
- Alternative Author(s)
- Kim, Yoon Nyun; Han, Seong Wook
- Journal Title
- 순환기
- ISSN
- 1225-164X
- Issued Date
- 2004
- Keyword
- Long QT syndrome; Gene; Chromosome
- Abstract
- Background and Objectives:Congenital long QT syndrome (LQTS) is a genetic disease that brings prolongation
of the QT interval on an electrocardiogram and leads to syncope and sudden death by a fatal ventricular
arrhythmia. In Korea, there have been studies about the clinical characteristics and treatment of LQTS,
but there are no studies for the molecular and biological evaluation of its genetic mutation. Subjects and Methods:
Six nationwide university hospitals and laboratories segregated DNA from the blood of 10 patientsdiagnosed
with LQTS to analyze the genetic mutation. Results:Nine out of ten individuals were female. Eight
showed genetic mutations. Three had an abnormality in the KvLQT1, 6 in the HERG and 2 had abnormalities
in both KvLQT1 and HERG. None had abnormalities in KCNE1 and 2 showed no abnormalities in KvLQT1,
HERG or KCNE1. Conclusion:Congenital LQTS shows various genetic mutations, and this indicates the necessity
for further organized study in more individuals for confirmation of the relationship between the results
of clinical diagnosis and genetic analysis. (Korean Circulation J 2004;34(8):813-819)
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