嗜铬细胞瘤7个致病基因的高通量基因检测方法的建立  

Establishment of a high throughput gene detection method for seven pathogenic genes of pheochromocytoma

作　　者：谢晓雁[1] 宋倩倩[1] 崔斌[1,2] 

机构地区：[1]上海交通大学医学院附属瑞金医院,上海市内分泌代谢病研究所,上海200025 [2]中国科学院上海生命科学研究院/上海交通大学医学院健康科学研究所,上海200025

出　　处：《上海交通大学学报（医学版）》2016年第8期1140-1143,共4页Journal of Shanghai Jiao tong University:Medical Science

基　　金：上海市浦江人才计划(15PJD029);上海市教育委员会高峰高原学科建设计划(20152502)~~

摘　　要：目的·建立嗜铬细胞瘤致病基因的高通量测序检测方法平台体系,为基因诊断进入常规临床检测作准备。方法·采用高通量测序建库两步PCR方法,针对嗜铬细胞瘤的7个致病基因(SDHB,SDHC,SDHD,VHL,MAX,TMEM127和RET)的35个基因片段进行建库,然后使用Miseq机器进行后续的高通量测序。结果·建库的35个基因片段在Miseq机器都得到了检测,并且均一性达到了实验最初的设想。结论·该实验方法完成了嗜铬细胞瘤7个致病基因的基因检测工作,实验的质量和成本都达到了预期效果。Objective · To establish a test method platform system for high throughput sequencing of pathogenic genes of pheochromocytoma and make preparation for including the genetic diagnosis into routine clinical testing. Methods · The bank was constructed for 35 DNA fragments in 7 pathogenic genes （SDHB, SDHC, SDHD, VHL, MAX, TMEM127, and RET） of pheochromocytoma with two-step PCR method of high throughput sequencing. The high throughput sequencing was performed on illumine Miseq machine. Results · Thirty-five DNA fragments were detected on illumine Miseq machine and the uniformity met the design of experiment. Conclusion · This method completed the gene detection for 7 pathogenic genes of pheochromocytoma. The quality and cost of the experiment achieved the expectation.

关 键 词：嗜铬细胞 高通量测序 致病基因 

分 类 号：R736.6[医药卫生—肿瘤]