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为研究ＱＴ延长综合征（ＬＱＴＳ）致病的分子遗传学基础。我们在ＰＣＲ基础上建立ＳＳＣＰ方法对ＬＱＴ患者和正常对照者ＨＥＲＧ基因的突变进行研究。并且利用克隆技术对突变进行确证。通过ＳＳＣＰ分析，在１例正常对照者中发现异常条带，该突变无法用直接测序确证，因此我们将其转入质粒，克隆后再进行测序。结果提示在ＨＥＲＧ基因７５２位点（５′→３′）异常插入９个碱基。突变型为杂合子。突变导致蛋白通道氨基酸序列中插入ＧｌｙＡｌａＧｌｙ。与其他已报道的突变不同，本文所发现的３个氨基酸的插入突变不是ＬＱＴＳ发生的遗传基础。
Molecular genetic basis for the study of the pathogenicity of QT prolongation syndrome (LQTS). We established the SSCP method based on PCR to study HERG gene mutations in LQT patients and normal controls. And the use of cloning technology to confirm the mutation. By SSCP analysis, an abnormal band was found in one normal control and the mutation could not be confirmed by direct sequencing. Therefore, we transferred it into the plasmid and cloned it for sequencing. The results suggest that HERG gene 752 site (5 ’→ 3’) abnormal insertion of 9 bases. Mutant heterozygous. Mutations lead to the insertion of Gly AlalGly in the amino acid sequence of the protein channel. Unlike other reported mutations, the three amino acid insertion mutations found here are not the genetic basis for the development of LQTS.