口周色素沉着-肠道息肉综合征致病基因STK11突变的分析  

The study of STK11 gene mutation in Xinjiang people with Peutz-Jeghers syndrome

作　　者：田艳[1] 康晓静[2] 高峰[2] 吴卫东[2] 张德志[2] 吴秀娟[2] 普雄明[2] 

机构地区：[1]新疆医科大学,新疆乌鲁木齐830011 [2]新疆维吾尔自治区人民医院,新疆乌鲁木齐830002

出　　处：《新疆医科大学学报》2009年第5期552-554,共3页Journal of Xinjiang Medical University

基　　金：新疆维吾尔自治区重点科技攻关项目资助(200633129)

摘　　要：目的:探讨4个口周色素沉着-肠道息肉综合征(Peutz-Jeghers syndrome,PJS)先证者STK11基因的胚系突变。方法:采用PCR和DNA直接测序的方法检测4个PJS先证者STK11基因前8个外显子的胚系突变。结果:在所有PJS患者均检测到STK11基因的一个胚系突变,此突变位点位于内含子7(7bp),该处发生了G→G/C杂合突变。结论:该研究中所有PJS患者均存在STK11基因胚系突变,但突变发生率均较国外报道低(30%～80%),提示可能存在遗传异质性。Objective： To investigate the germline mutation characteristics of STKll gene in 4 probands with Peutz-Jeghers syndrome. Methods： PCR and direct sequencing were performed on 4 PJS probands to detect the mutations of eight exons and the flank regions of the STK11 gene. Results： .There was a germline mutation in intron 7（7 bp） of STK11 gene in all of the patients. It is a heterozygosis mutation G to G/C. Conclusion： There are germline mutations of STK11 gene in all the patients we collected. But the frequency of the mutations was fewer than it in previous reports. It sugguested that there may be a genetic heterogereity in PJS.

关 键 词：PEUTZ-JEGHERS综合征 STK11基因 突变 

分 类 号：R394.1[医药卫生—医学遗传学]