| 二代测序技术在儿童T淋巴母细胞淋巴瘤全外显子测序中的应用 |
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| 引用本文： | 姚新原, 温贤浩, 宪莹, 朱进, 肖剑文. 二代测序技术在儿童T淋巴母细胞淋巴瘤全外显子测序中的应用[J]. 分子影像学杂志, 2018, 41(4): 534-537. doi: 10.12122/j.issn.1674-4500.2018.04.25 |
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| 作者姓名： | 姚新原 温贤浩 宪莹 朱进 肖剑文 |
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| 作者单位： | 1.重庆医科大学附属儿童医院血液肿瘤中心;;2.儿童发育疾病研究教育部重点实验室;;3.儿科学重庆市重点实验室，重庆 400014 |
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| 摘 要： | ![]()
目的建立从石蜡包埋的儿童T淋巴母细胞淋巴瘤（T-LBL）病理组织中提取基因组DNA，采用二代测序技术行全外显子测序检测的方法并分析其可行性。方法从10例儿童T-LBL石蜡包埋组织中提取基因组DNA，PCR反应扩增后采用二代测序技术行全外显子测序检测并确定致病位点，所获得的致病突变采用Sanger测序法测序确认，比较两种方法的一致性。结果10例石蜡包埋T-LBL组织标本中均成功提取到基因组DNA，采用二代测序技术开展全外显子测序测序均检测到致病突变；二代测序检测结果经Sanger测序法验证，证实致病突变确实存在，且与Sanger测序结果一致。结论基于二代测序技术的全外显子测序测序可用于检测石蜡包埋的儿童T-LBL病理标本的致病突变。
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| 关 键 词： | 石蜡包埋组织 儿童 T淋巴母细胞淋巴瘤 二代测序技术 全外显子测序 |
| 收稿时间： | 2018-05-08 |
Application of next generation sequencing in the whole exome sequencing for pediatric T lymphoblastic lymphoma |
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| Xinyuan YAO, Xianhao WEN, Yin XIAN, Jin ZHU, Jianwen XIAO. Application of next generation sequencing in the whole exome sequencing for pediatric T lymphoblastic lymphoma[J]. Journal of Molecular Imaging, 2018, 41(4): 534-537. doi: 10.12122/j.issn.1674-4500.2018.04.25 |
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| Authors: | Xinyuan YAO Xianhao WEN Yin XIAN Jin ZHU Jianwen XIAO |
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| Affiliation: | 1. Blood tumor center, Children Hospital Affiliated to Chongqing Medical University;;2. Key Laboratory of the Ministry of Education for Research on Child Developmental Diseases;;3. Chongqing Key Laboratory of Pediatrics, Chongqing 400014, China |
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| Abstract: | ![]()
ObjectiveTo establish the methods of extract DNA and detect whole exome sequencing (WES) by using next generation sequencing (NGS) technique from paraffin embedded samples for children with T lymphoblastic lymphoma (T-LBL) and to explore its feasibility.MethodsGenomic DNA was extracted from 10 cases of paraffin embedded samples with pediatric T-LBL. Genomic DNA samples were amplified by polymerase chain reactions, NGS technique was used for WES detection and pathogenic mutations were founded. The pathogenic mutations were confirmed by Sanger sequencing, comparison of consistency between NGS technique and Sanger sequencing was evaluated.ResultsGenomic DNA samples were successfully extracted from the 10 T-LBL specimens of paraffin embedded tissues. The pathogenic mutations were detected by NGS technique and the result was consistent with the Sanger sequencing method.ConclusionNGS technology can be used for WES and detection of pathogenic mutation for paraffin embedded pediatric T-LBL specimens. |
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| Keywords: | paraffin-embadded tissues children T cell lymphoblastic lymphoma next generation sequencing whole exome sequencing |
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