• Original article (Basic research) • Previous Articles     Next Articles

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

XIE Xiao-yan1, SONG Qian-qian1, CUI Bin1,2   

  1. 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:2016-08-29 Published:2016-08-31
  • Supported by:

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

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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.