【摘要】 人类MINK基因的两种突变导致长QT综合征（LQTS）。我们设计了两对引物利用PCR－SSCP结合直接测序法在病人及健康者中对MINK基因进行分析，结果发现第149位密码子产生A→G转换。在所研究的对象中，此变化在病人及正常对照者中均有存在。提示MINK基因的此突变性质为非病理性的多态突变。更多还原

【Abstract】 Two novel mutations that have been described in human MM gene are corresPOnding for Long QT Syndrome (LQTS). Two pairs of primers were designed to screen hMINK gene both in patients and in normal controls, We performed screening by PCR-SSCP analysis combining with direct sequencing. It showed a single A→G transition at POsition 149. This change was found in both patients and healthy subjects.更多还原