上海交通大学学报（医学版）

上海交通大学学报（医学版） >

2016 , Vol. 36 >Issue 8: 1140

DOI: https://doi.org/10.3969/j.issn.1674-8115.2016.08.006

论著（基础研究）

嗜铬细胞瘤7个致病基因的高通量基因检测方法的建立

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  • 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
谢晓雁（1972—），女，主管技师，硕士；电子信箱：xiaoyan115@hotmail.com。

网络出版日期: 2016-08-31

基金资助

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）

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

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  • 1. Shanghai Institute of Endocrinology and Metabolism, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China; 2. Institute of Health Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences / Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China

Online published: 2016-08-31

Supported by

Shanghai Pujiang Program, 15PJD027; Shanghai Municipal Education Commission—Gaofeng Clinical Medicine Grant Support, 20152502

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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。

关键词： 嗜铬细胞; 高通量测序; 致病基因

本文引用格式

谢晓雁 宋倩倩 崔斌 . 嗜铬细胞瘤7个致病基因的高通量基因检测方法的建立[J]. 上海交通大学学报（医学版）, 2016 , 36(8) : 1140 . DOI: 10.3969/j.issn.1674-8115.2016.08.006

Abstract

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.

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