Peutz-Jeghers综合征患者STK11基因突变情况  

STK11 gene mutations in patients with Peutz-Jeghers syndrome

作　　者：毛旭燕 张亚飞[2] 毛高平[2] 王海丰 宁守斌[2] 

机构地区：[1]河北北方学院研究生院,河北省张家口市075000 [2]中国人民解放军空军总医院,北京市100142 [3]上海南方基因科技有限公司,上海市201203

出　　处：《世界华人消化杂志》2015年第2期332-337,共6页World Chinese Journal of Digestology

基　　金：北京市科技委员会基金资助项目;No.D101100050010037~~

摘　　要：目的:Peutz-Jeghers综合征(Peutz-Jeghers syndrome,PJS)是一种较为罕见的以胃肠道多发息肉和皮肤黏膜色素沉着为特征的常染色体显性遗传性疾病,具有较高的肿瘤易感性.研究表明,位于19p13.3位点丝/苏氨酸蛋白激酶(serine/threonine kinase 11,STK11)基因的突变是PJS发病的主要原因.我们通过检测36例(16例具有家族史,20例散发患者)PJS患者STK11基因外显子及侧翼序列突变情况,捕获新的突变位点.方法:采用PCR扩增及DNA直接测序的方法检测36例PJS患者STK11基因外显子及侧翼序列突变情况,并与STK11基因的正常序列对比分析.结果:在所有36例P J S患者中22例检测到STK11基因编码区的突变,其中3例患者携带同一个突变位点,余19例患者均携带单一突变位点.其余14例患者STK11基因编码区未见突变位点.22例发生突变的患者中,5例患者发生移码突变(其中2例移码突变位点已被SNP收录);17例患者发生错义突变(其中8例患者错义突变为终止密码子,此8例中4例突变已被SNP收录).所有突变的患者中共15例未被SNP及Clinwar基因库收录,未见相关报道,考虑为新发现的突变位点.家族史组STK11基因突变率62.5%(10/16),散发组STK11基因突变率60.0%(12/20),两组差异无统计学意义(P>0.05)结论:STK11基因突变是PJS(无论家族史或散发患者)发病的主要致病原因,新发现的移码突变或错义突变可能是PJS患者发病的遗传基础之一.AIM： To identify point mutations in the STK11 gene coding region in patients with PeutzJeghers syndrome（PJS）. METHODS： The sequences of the coding region of th STK11 gene in 36 PJS patients were analyzed using PCR and DNA sequencing and compared with the normal sequence of the STK11 gene. RESULTS： Of the 36 patients with PJS, 22 showed STK11 gene mutations in the codingregion, including 3 patients having the same mutation and 19 patients with a unique mutation site. The remaining 14 patients were not found to have mutations in the STK11 gene coding region. Of the 22 patients with STK11 gene mutations, 5 showed frame-shift mutations, of which 2 were included in SNP gene databases, and 17 showed missense mutations, of which 8 were changed to a termination codon and 4 were included in SNP gene databases. Among the gene mutations identified in our patients, 15 were not included in gene databases and were considered new mutations. The gene mutation rate was 62.5% in patients with a family history and 60.0% in sporadic cases（P〉0.05）.CONCLUSION： Mutations of the STK11 gene are a major cause of PJS. The newly found missense and frame-shift mutations may be associated with PJS.

关 键 词：STK11基因 基因突变 PEUTZ-JEGHERS综合征 

分 类 号：R735[医药卫生—肿瘤]