Analysis of HERG gene in a patient with short-QT syndromeChinese Full Text

ZHANG Xing-yu1,XU Chao2,L Li-xiong1,ZHOU Wei1,SONG Huai-dong2 (1.Emergency Department,Renji Hospital,School of Medicine,Shanghai Jiaotong University,Shanghai,200127,China,2.State Key Lab of Medical Genomics,Renji Hospital,School of Medicine,Shanghai Jiaotong University,Shanghai,200127,China)

Abstract: AIM To screen the HERG gene mutation in a patient with familial short QT-interval syndrome.METHODS A 30-year-old woman presented with idiopathic ventricular fibrillation and cardiac syncope.Her QT interval in the ECG was abnormally short without perceived electrolytes and cardiac structural abnormalities.The ECG of her mother and daughter also suggested short QT interval.The patient was diagnosed as having short-QT syndrome.Genomic DNA was isolated from the patient’s peripheral blood.The 16 exons and the intron-exon boundaries of HERG were amplified by the polymerase chain reaction assay and the polymerase chain reaction products were purified and were directly sequenced with the use of ABI PRISM 3700 Automatic DNA Sequencer.RESULTS Eight single nucleotide polymorphisms（SNPs） were found,among which 7 SNPs had been listed in the Single Nucleotide Polymorphism National Center for Biotechnology Information（SNP NCBI） database and one SNP was new: one base pair in the exon HERG-E-8-3 was substituted by mutation of heterozygosis of T/C without changes of the encoding amino acids in the Ikr channel.No disease casing mutation was found in HERG gene.CONCLUSION HERG gene is not related to the familial short-QT syndrome in this patient.

Keywords：

Short QT syndrome; HERG gene;

DOI：
10.13191/j.chj.2007.05.81.zhangxy.027
Series：
Subject：
Classification Code：
R541.7

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Analysis of HERG gene in a patient with short-QT syndromeChinese Full Text

ZHANG Xing-yu1,XU Chao2,L Li-xiong1,ZHOU Wei1,SONG Huai-dong2 (1.Emergency Department,Renji Hospital,School of Medicine,Shanghai Jiaotong University,Shanghai,200127,China,2.State Key Lab of Medical Genomics,Renji Hospital,School of Medicine,Shanghai Jiaotong University,Shanghai,200127,China)

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