Mutation analysis for the detection of long QT-syndrome (LQTS) associated SNPs.
Congenital long QT-syndrome (LQTS) is an inherited cardiac arrhythmia, which is characterized by a prolonged QT interval which predisposes to sudden cardiac death due to ventricular arrhythmias. The altered functions are based on different mutations in LQTS-associated genes. In this study, we performed a mutation analysis for the detection of 125 LQTS-associated single nucleotide polymorphisms (SNPs) focused on the genes KCNQ1, KCNH2, and SCN5A by using the SNaPshot multiplex minisequencing technique. Furthermore, we investigated 152 autopsy-negative cases from younger adults and infants, as well as samples from patients with clinically suspicion for LQTS, in which we found two types of variations.
Institute of Legal Medicine, University of Leipzig, Leipzig, Germany. jeanett.edelmann@medizin.uni-leipzig.de.
Edelmann
E
J
Department of Forensic Medicine, Wroclaw Medical University, Wroclaw, Poland.
Dobosz
D
T
Department of Pathophysiology, Division of Electrocardiology and Cardiovascular Diseases Prevention, Wroclaw Medical University, Wroclaw, Poland.
Sobieszczanska
S
M
Department and Clinic of Cardiology, Wroclaw Medical University, Wroclaw, Poland.
Kawecka-Negrusz
KN
M
Institute of Legal Medicine, University of Leipzig, Leipzig, Germany.
Dreßler
D
J
Institute of Legal Medicine, University of Leipzig, Leipzig, Germany.
Nastainczyk-Wulf
NW
M
D004252:DNA Mutational Analysis; D000072237:ERG1 Potassium Channel / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D051657:KCNQ1 Potassium Channel / Q000235:genetics*; D008133:Long QT Syndrome / Q000235:genetics*; D060885:Multiplex Polymerase Chain Reaction; D062554:NAV1.5 Voltage-Gated Sodium Channel / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
D000072237:ERG1 Potassium Channel; C000606913:KCNH2 protein, human; D051657:KCNQ1 Potassium Channel; D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human
KCNH2; KCNQ1; Long QT-syndrome (LQTS); SCN5A; SNaPshot technique; Single nucleotide polymorphisms (SNPs); Sudden cardiac death (SCD)