中国神经再生研究(英文版) ›› 2016, Vol. 11 ›› Issue (8): 1333-1338.doi: 10.4103/1673-5374.189200

• 原著:脊髓损伤修复保护与再生 • 上一篇    下一篇

COX8C位点染色体畸变与脊髓栓系综合征:微阵列比较基因组杂交分析的阐释

  

  • 出版日期:2016-08-31 发布日期:2016-08-31

Association between chromosomal aberration of COX8C and tethered spinal cord syndrome: array-based comparative genomic hybridization analysis

Qiu-jiong Zhao1, #, Shao-cong Bai1, #, Cheng Cheng1, Ben-zhang Tao1, Le-kai Wang1, Shuang Liang1, Ling Yin3, Xing-yi Hang2, *, Ai-jia Shang1, *   

  1. 1 Department of Neurosurgery, Chinese PLA General Hospital, Beijing, China 2 iGeneTech Biotechnology Co., Ltd., Beijing, China 3 Department of Neurology, Chinese PLA General Hospital, Beijing, China
  • Online:2016-08-31 Published:2016-08-31
  • Contact: Ai-jia Shang, M.D., Ph.D. or Xing-yi Hang, Ph.D., shangaj@163.com or xingyi.hang@igenetech.com.

摘要:

既往研究表明,神经管畸形患者存在DNA拷贝数变异的情况。作者采用微阵列比较基因组杂交方法,对3例脊髓栓系综合征患儿和其中1例患儿的健康父母进行全基因组分析。发现8个DNA拷贝数变异,其中4个为非多态性。这些非多态性拷贝数变异与Angelman综合征和Prader-Wolli综合征及小头畸形表型有关。基因功能富集分析也显示,位于患者1的拷贝数变异区域中的COX8C是与神经系统代谢性疾病相关的基因。结果表明,微阵列比较基因组杂交方法可用于临床诊断脊髓栓系综合征,其研究结果可能有助于揭示脊髓栓系综合征的发病机制和有利于早期预防该病的发生。 

orcid: 0000-0002-4895-5442 (Ai-jia Shang)0000-0002-3736-2203 (Xing-yi Hang)

关键词: 神经再生, 神经管畸形, 脊髓栓系综合征, 比较基因组杂交, 基因功能富集分析, 基因组变异数据库, decipher 数据库, 拷贝数变异, COX8C

Abstract: Copy number variations have been found in patients with neural tube abnormalities. In this study, we performed genome-wide screening using high-resolution array-based comparative genomic hybridization in three children with tethered spinal cord syndrome and two healthy parents. Of eight copy number variations, four were non-polymorphic. These non-polymorphic copy number variations were associated with Angelman and Prader-Willi syndromes, and microcephaly. Gene function enrichment analysis revealed that COX8C, a gene associated with metabolic disorders of the nervous system, was located in the copy number variation region of Patient 1. Our results indicate that array-based comparative genomic hybridization can be used to diagnose tethered spinal cord syndrome. Our results may help determine the pathogenesis of tethered spinal cord syndrome and prevent occurrence of this disease.

Key words: nerve regeneration, neural tube defects, tethered spinal cord syndrome, comparative genomic hybridization, COX8C, gene function enrichment analysis, database of genomic variants, database of DECIPHER, copy number variations, neural regeneration