Peutz-Jeghers综合征一家系STK11基因突变分析  

Mutation analysis ofSTKI1 gene in a Chinese family with Peutz-Jeghers syndrome

作　　者：赵小燕[1] 黄一锦[1] 杨炳春[2] 赵岩[2] 

机构地区：[1]厦门大学附属第一医院皮肤科,福建省361003 [2]厦门大学附属第一医院中心实验室,福建省361003

出　　处：《中华医学遗传学杂志》2014年第3期294-297,共4页Chinese Journal of Medical Genetics

基　　金：厦门市科技计划项目基金（3502220089005）

摘　　要：目的研究1个Peutz-Jeghers综合征家系的STK11基因突变情况。方法收集该家系详细的临床资料，外周血提取基因组DNA，PCR扩增STK11基因的9个编码外显子，通过PCR扩增产物直接测序法对该家系患者、正常成员和100名无血缘关系的正常人进行STKll基因突变检测。结果在该家系患者STK11基因的第8外显子上发现错义突变p．F354L（c．1062C〉G），而家系中正常成员和家系外100名正常人中均未能发现该突变。结论STK11基因错义突变P．F354L可能是导致此家系中患者临床表现的特异突变。Objective To investigate STKll gene mutation in a pedigree with Peutz-Jeghers syndrome （PJS）. Methods A pedigree of PJS was investigated. DNA was extracted from peripheral blood samples from affected and unaffected members of the pedigree and 100 unrelated healthy controls. PCR was performed to amplify all of the 9 coding exons of STKll gene. PCR products were directly sequenced to detect mutation. Results A missense mutation p. F354L （c. 1062C〉G） in exon 8 of the STKll gene has been identified in all patients with JPS, but was not found in normal individuals from the pedigree and 100 unrelated controls. Conclusion A missense mutation p. F354L of STK11 gene probably underlies the disease in this pedigree.

关 键 词：PEUTZ-JEGHERS综合征 STK11基因 突变 

分 类 号：R735.3[医药卫生—肿瘤]