| 余道江,涂文玲,江志强,等.南京“5.7”192Ir源事故患者组织全基因组测序分析[J].中华放射医学与防护杂志,2021,41(4):247-252.Yu Daojiang,Tu Wenling,Jiang Zhiqiang,et al.Whole-genome sequencing analysis of the victim exposed to a super high dose of iridium-192 during the Nanjing radiological accident in 2014[J].Chin J Radiol Med Prot,2021,41(4):247-252 |
| 南京“5.7”192Ir源事故患者组织全基因组测序分析 |
| Whole-genome sequencing analysis of the victim exposed to a super high dose of iridium-192 during the Nanjing radiological accident in 2014 |
| 投稿时间：2020-07-10 |
| DOI：10.3760/cma.j.issn.0254-5098.2021.04.002 |
| 中文关键词: 放射事故 全基因组测序 基因变异 |
| 英文关键词:Radiation accident Whole-genome sequencing Genetic variation |
| 基金项目:国家自然科学基金（32071238，U1967220，31770911）；中国核工业集团青年英才计划项目（2018-272，2019-344）；四川省卫健委科研课题（20PJ227，20YYJC035） |
|
| 摘要点击次数: 3075 |
| 全文下载次数: 1745 |
| 中文摘要: |
| 目的 采用全基因组测序对南京"5.7"192Ir源事故患者外周血及组织进行照后第2 047天（5年7个月零7天）基因变异分析，探讨其电离辐射引起的体细胞变异情况，为明确电离辐射引起的远后效应提供理论依据。方法 收集南京"5.7"192Ir源事故患者王某照后第2 047天的背部正常皮肤组织、受照射范围内的骨及软组织、外周血3种样本，分别提取DNA后采用全基因组测序技术对样本进行高通量测序，并通过生物信息学对原始测序数据进行分析。以背部正常皮肤组织为对照，开展受照射范围内的骨及软组织、外周血的基因变异检测分析。结果 与背部正常皮肤组织相比，受照射范围内的骨及软组织和外周血的基因组出现了多种基因变异，包括碱基置换（碱基转换、碱基颠换）、小片段插入、小片段缺失、拷贝数变异（拷贝数增加、拷贝数减少）以及结构变异（大片段缺失、大片段重复、倒位、染色体内易位以及染色体间易位），受照射范围内的骨及软组织出现10 666个基因变异，外周血出现11 233个基因变异，变异DNA涉及上万个基因。这些基因变异存在于外显子、内含子、3'UTR（3'untranslated region，3'端非编码区）、5'UTR（5'untranslated region，5'端非编码区）、剪切位点附近、转录起始位点上游5 kb区域以内、转录终止位点下游5 kb区域以内、非编码RNA以及基因间隔区域，且所有染色体都存在基因变异。结论 南京"5.7"192Ir源放射事故患者照后第2 047天受照射范围内的骨及软组织和外周血中存在大量的基因变异，可能影响机体的功能及电离辐射诱发的远后效应。 |
| 英文摘要: |
| Objective To investigate radiation-induced somatic mutations and variations and provide theoretical basis for clarifying radiation-induced genetic changes and long-term effects by whole-genome sequencing analysis of the genetic variations of the victim of the "5.7" 192Ir radiation accident in Nanjing. Methods Normal back skin tissue, irradiated bone and soft tissues, and peripheral blood were collected from the victim 2 047 days post-irradiation. DNA of these samples was extracted and sequenced with high-throughput genomics and analyzed by bioinformatics method. The genetic variations of between irradiated and normal tissues were compared. Results Compared with normal back skin tissue, there are large amounts of genetic variations in the irradiated bone and soft tissues and peripheral blood, including base substitution (transition, transversion), small insertion, small deletion, copy number variation (gain, loss) and structure variation (large deletion, large duplication, inversion, intra-chromosomal translocation, inter-chromosomal translocation). There were 10 666 genetic variations in the irradiated bone and soft tissues and 11 233 genetic variations in peripheral blood, where thousands of genes were involved in. These variations occurred in the exons, introns, UTR'3, UTR'5, splicing sites, within 5 kb upstream of transcription initiation site, within 5 kb downstream of transcription termination site, ncRNA and intergenic region. All chromosomes had genetic variations. Conclusions There were a large number of genetic variations in the irradiated tissues and blood of the victim at 2 047 days after irradiation, which may affect the body function and cause the long-term effects. |
| HTML 查看全文 查看/发表评论 下载PDF阅读器 |
| 关闭 |
|
|
|