Mutation analysis for the detection of long QT-syndrome (LQTS) associated SNPs

作者：Edelmann J^*; Dobosz T; Sobieszczanska M; Kawecka Negrusz M; Dressler J; Nastainczyk Wulf M

来源：International Journal of Legal Medicine, 2017, 131(2): 333-338.

DOI：10.1007/s00414-016-1446-9

• Long QT-syndrome (LQTS)
• Sudden cardiac death (SCD)
• SNaPshot technique
• Single nucleotide polymorphisms (SNPs)
• KCNQ1
• KCNH2
• SCN5A

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 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.

• 出版日期2017-3