| 俞莎莎 谢会君 张乐乐 宋怀东 郑翠侠.应用全外显子测序和显微切割技术识别1 例肺癌患者高频突变基因的异质性探索[J].现代生物医学进展英文版,2016,16(4):606-610. |
| 应用全外显子测序和显微切割技术识别1 例肺癌患者高频突变基因的异质性探索 |
| Using Whole-Exome Sequencing and Laser Capture Microdissection toRecognize High Mutation Genes and Investigate the Heterogeneity in onePatient with Lung Cancer |
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| DOI： |
| 中文关键词: 肺癌 异质性 全外显子测序 显微切割 |
| 英文关键词: Lung cancer Heterogeneity Whole-exomesequencing Laser capture microdissection |
| 基金项目:国家自然科学基金项目(81472177) |
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| 中文摘要: |
| 目的：通过对一例肺鳞癌患者全外显子测序来识别这例肺癌的可能致病基因，并通过显微切割初步探索这例肺癌肿瘤细胞
的起源与演化。方法：利用全外显子测序技术对肺癌肿瘤组织和相应癌旁组织测序；用COSMIC肿瘤数据库比较分析统计出肺癌
可能致病基因；用激光显微切割技术提取五个不同部位肿瘤细胞；巢式PCR 扩增，一代测序验证基因分型。结果：发现了这例肺癌
病人的7 个高频突变基因：LPHN2、TP53、MYH2、TGM2、C10orf137、MS4A3 和EP300；这些基因在10× 镜下和20× 镜下经显微
切割的肺癌组织的5 个不同部位上的基因分型不同。结论：我们通过全外显子测序发现了这例肺癌的7 个可能致病基因，并初步
探索了这例肺癌肿瘤细胞是多克隆起源的。 |
| 英文摘要: |
| Objective:To discover suspicious driver genes of one lung squamous carcinoma patient by Whole-Exome Sequencing
and to preliminarily investigate the origin and progression of this cancer through laser capture microdissection.Methods:We conducted
the Whole-Exome Sequencing of a lung squamous carcinoma and adjacent normal tissue; compared with COSMIC tumor database, we
inferred several suspicious driver genes of lung cancer; tumor cells from five different directions were microdissectedbylaser capture
microdissection; the genome typing was determined by nest- polymerase chain reaction (nest-PCR) and Sanger sequencing.Results:We
inferred seven high mutation genes of lung cancer: LPHN2, TP53, MYH2, TGM2, C10orf137, MS4A3 and EP300; the genome typing of
these seven genes were distincted in five dissections both in 10 × and 20× microscope.Conclusion:We inferred seven suspicious
driver genes of this lung squamous carcinoma by Whole-Exome Sequencing, and preliminarily discovered that this lung cancer cell may
be derived frompolyclonal cells. |
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