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

详细信息    查看全文

• 作者：Edelmann J. ; Dobosz T. ; Sobieszczanska M.…
• 关键词：Long QT ; syndrome (LQTS) ; Sudden cardiac death (SCD) ; SNaPshot technique ; Single nucleotide polymorphisms (SNPs) ; KCNQ1 ; KCNH2 ; SCN5A
• 刊名：International Journal of Legal Medicine
• 出版年：2017
• 出版时间：March 2017
• 年：2017
• 卷：131
• 期：2
• 页码：333-338
• 全文大小：
• 刊物类别：Medicine
• 刊物主题：Forensic Medicine; Medical Law; Medicine/Public Health, general;
• 出版者：Springer Berlin Heidelberg
• ISSN：1437-1596
• 卷排序：131

文摘

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.