Peutz-Jeghers综合征一家系的STK11基因的突变研究

Mutation of STK11 gene in a family with Peutz-Jeghers syndrome

目的研究Peutz-Jeghers综合征一家系的STK11基因突变情况。方法收集1例Peutz-Jeghers综合征家系,采用聚合酶链反应(PCR)及直接测序法对该家系中4例患者STK11基因进行突变检测,以家系中的8例健康者和100例无亲缘关系的正常人作对照。结果家系中4例患者STK11基因的5号外显子第725位碱基鸟嘌呤(G)被腺嘌呤(A)替代,导致第242位的甘氨酸被谷氨酸取代(G242E),而在家系中健康者及无亲缘关系的正常人中均未发现此突变。结论错义突变c.725G>A是导致该家系临床表型的主要原因。

Objective To explore the mutation of STK11 gene in a Chinese family with Peutz-Jeghers syndrome.Methods All the coding exons of STK11 gene were amplified by polymerase chain reaction and followed by direct sequencing.Results A missense mutation was identified which had been reported previously in the 4 patients,but normal in all controls.Conclusions The c.725G>A(p.G242E)mutation of STK11 gene is the pathologic mutation in this Chinese family.