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目的明确基因筛查对先天性和获得性长QT综合征(LQTS)诊断和治疗意义。方法应用PCR方法扩增位于LQT1、LQT2和LQT3基因内和临近的9个短串联重复序列(shorttandemrepeatsSTR)位点后,行染色体单倍型连锁分析;HERG基因外显子的PCR产物直接测序。结果3位患者携带缺失19个碱基的HERG突变基因,该致病基因来自于父系家族。结论基因筛查进行早期和准确的诊断。从而对LQTS患者实施个体化的治疗方案。
Objective To clarify the significance of genetic screening in diagnosis and treatment of congenital and acquired long QT syndrome (LQTS). Methods PCR amplification of 9 short tandem repeats (STR) sites within and adjacent to LQT1, LQT2 and LQT3 genes was performed by haplotype linkage analysis. The PCR products of exon of HERG gene were directly sequenced. Results Three patients had a deletion of the 19-base HERG mutant gene from the paternal lineage. Conclusion Gene screening for early and accurate diagnosis. Thus implementing a personalized treatment plan for LQTS patients.