关于中国报道Peutz-Jeghers综合征中STK11突变的定性研究  

Chinese reports of STK11 mutations in Peutz-Jeghers Syndrome:a qualitative study

作　　者：蒋宇亮 李伟聪[2] 赵子夜[3] 吴静[4] 宁守斌 刘红[1] JIANG Yu-liang;LI Wei-cong;ZHAO Zi-ye;WU Jing;NING Shou-bing;LIU Hong(Department of Gastroenterology, Shijitan Hospital Affiliated to Capital Medical University, Beijing 100038, China;Physical Examination Center, Aerospace Central Hospital, Beijing 100040, China;Department of Colorectal Surgery, Changhai Hospital, Shanghai 200433, China;Department of Gastroenterology,Friendship Hospital Affiliated to Capital Medical University, Beijing 100050, China;Department of Gastroenterology, Airforce General Hospital of PLA, Beijing 100142, China)

机构地区：[1]首都医科大学附属世纪坛医院消化科,北京100038 [2]北京市航天中心医院健康管理部,北京100040 [3]上海长海医院肛肠外科,上海200433 [4]首都医科大学附属友谊医院消化科,北京100050 [5]中国人民解放军空军特色医学中心消化科,北京100142

出　　处：《河北医科大学学报》2021年第12期1376-1381,共6页Journal of Hebei Medical University

基　　金：北京世纪坛医院青年课题(2019-q09);北京市属医院科研培育项目(PX2021030)。

摘　　要：目的对已报道的中国Peutz-Jeghers综合征(Peutz-Jeghers syndrome,PJS)患者STK11基因致病突变进行定性研究,对存在问题和错误进行分析,探讨其可能发生的原因。方法对中国PJS患者中已报道的STK11基因致病突变进行了全面回顾,对其进行分析、检查,并与常用的数据库信息进行检索、比较。结果最终纳入55篇报道,共包含181种不同的STK11突变,其中中国学者首次报道108种。有27种突变存在错误(占比25.0%),分别为22种重复报道和5种新突变命名错误。原因包括数据库收录不全、因错误信息导致的后续错误报道、文献综述不足、短期内重复报道以及因重复序列引起的命名错误。结论错误报道的发生有多种原因,对错误信息的澄清,对于PJS的遗传咨询及相关研究非常重要和必要。Objective To perform a qualitative study on pathogenic mutations in STK11 gene in Chinese patients with Peutz-Jeghers syndrome(PJS),to analyze the existing ambiguity and faults,and to explore the potential cause.Methods A comprehensive review of STK11 mutations reported in Chinese PJS patients was conducted,and the mutations were critically checked and compared to the information of accessible databases.Results In total,181 different mutations were found to be recorded in 55 literature,within which 108 was firstly reported by Chinese scholars.Within the 108 mutations,27 were misidentified(22 recurrent and 5 novel),which was 25.0%of all the cases reported in these articles.The main reasons for misreporting mutations included incomplete database collection,distorted former information misled by wrong information,insufficient literature review,novel ones reported twice in a short period of time and naming errors due to repeated sequences.Conclusion Error reporting happens due to several various reasons,therefore,it is very important and necessary to clarify the wrong information for the genetic counseling of PJS and related research.

关 键 词：PEUTZ-JEGHERS综合征 STK11基因 突变 

分 类 号：R730.269[医药卫生—肿瘤]