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DHPLC analysis of potassium ion channel genes in congenital long QT syndrome by Roselie Jongbloed; Carlo Marcelis; Crool Velter; Pieter Doevendans; Joep Geraedts; Hubert Smeets is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is DHPLC analysis of potassium ion channel genes in congenital long QT syndrome about?

Congenital long QT syndrome (LQTS) is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). As a result of these arrhythmias, patients suffer from recurrent syncopes, seizures, or sudden death as the most dramatic event. Mutations in five genes, encoding cardiac ion channels, have been identified in LQTS. Two potassium-channel genes, KCNQ1 (LQT1) and KCNH2 (LQT2 or HERG), are frequently involved in LQTS. Potassium-channel defects account for approximately 50-60% of LQTS. As patients benefit from preventive medication, early detection of a genetic defect is desired to identify the family members at risk. Speed and sensitivity of mutation detection was improved by applying the denaturing high performance liquid chromatography (DHPLC) technique for analysis of the entire KCNQ1 and KCNH2 genes and the protein encoding part of the KCNE1 and KCNE2 genes. By using this methodology, seven missense mutations in the KCNQ1 gene and nine mutations (four missense, two nonsense, one insertion, and two deletions) in the KCNH2 gene have been identified in a total number of 32 index patients diagnosed with LQTS syndrome. We c

Who reads DHPLC analysis of potassium ion channel genes in congenital long QT syndrome?

Author

Roselie Jongbloed; Carlo Marcelis; Crool Velter; Pieter Doevendans; Joep Geraedts; Hubert Smeets

Publisher

Hindawi Limited

Published

2002

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)