Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms

Ling Ping Lai, Yi Ning Su, Fu Tien Chiang, Jyh Ming Juang, Yen Bin Liu, Yi Lwun Ho, Wen Jone Chen, San Jou Yeh, Chun Chieh Wang, Yu Lin Ko, Tsu Juey Wu, Kwo Chang Ueng, Meng Huan Lei, Hsuan Ming Tsao, Shih Ann Chen, Tin Kwang Lin, Mei Hwan Wu, Huey Ming Lo, Shoei K.Stephen Huang, Jiunn Lee Lin

研究成果: 雜誌貢獻文章

32 引文 斯高帕斯(Scopus)

摘要

Mutations in cardiac potassium and sodium channel genes are responsible for several hereditary cardiac arrhythmia syndromes. We established a denaturing high-performance liquid chromatography (DHPLC) protocol for rapid mutation screening of these genes, and reported mutations and variations identified by this method. We included 28 patients with Brugada syndrome, 4 with congenital long QT syndrome (LQTS), 11 with drug-induced LQTS, 4 with idiopathic ventricular fibrillation, and 50 normal volunteers. Polymerase chain reactions were performed to amplify the entire coding region of these genes. DHPLC was used to screen for heteroduplexes then DNA sequencing was performed. With this method, we identified the mutation(s) in all four patients with congenital LQTS (KCNQ1 A341V, KCNH2 N633D, KCNH2 2768Cdel and KCNE1 K70 N Y81C double mutations). We also identified the SCN5A A551T mutation in 1 of the 28 patients with Brugada syndrome. All the above-mentioned mutations were novel except KCNQ1 A341V. No mutations were identified in patients with drug-induced LQTS or idiopathic ventricular fibrillation. In total, 25 single nucleotide polymorphisms were identified, 10 of which were novel. In conclusion, DHPLC is a sensitive and rapid method for detection of cardiac sodium and potassium channel gene mutations.
原文英語
頁(從 - 到)490-496
頁數7
期刊Journal of Human Genetics
50
發行號9
DOIs
出版狀態已發佈 - 九月 1 2005
對外發佈Yes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Lai, L. P., Su, Y. N., Chiang, F. T., Juang, J. M., Liu, Y. B., Ho, Y. L., Chen, W. J., Yeh, S. J., Wang, C. C., Ko, Y. L., Wu, T. J., Ueng, K. C., Lei, M. H., Tsao, H. M., Chen, S. A., Lin, T. K., Wu, M. H., Lo, H. M., Huang, S. K. S., & Lin, J. L. (2005). Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms. Journal of Human Genetics, 50(9), 490-496. https://doi.org/10.1007/s10038-005-0283-3