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| 应用限制性酶切片段长度多态性及变性高效液相色谱法筛选胶质瘤易感基因ERCC2的单核苷酸多态性比较 | |
| 引用本文： | 杨冬,李庆国,张亚卓,王红云,罗亦男,蒋传路,柯杨,戴钦舜.应用限制性酶切片段长度多态性及变性高效液相色谱法筛选胶质瘤易感基因ERCC2的单核苷酸多态性比较[J].中国微侵袭神经外科杂志,2005,10(4):164-166. |
| 作者姓名： | 杨冬 李庆国 张亚卓 王红云 罗亦男 蒋传路 柯杨 戴钦舜 |
| 作者单位： | 1. 哈尔滨医科大学第一附属医院神经外科,黑龙江,哈尔滨,150001 2. 天津市环湖医院神经外科,天津,300060 3. 北京市神经外科研究所,北京,100050 4. 吉林大学第一附属医院神经外科,吉林,长春,130021 5. 哈尔滨医科大学第二附属医院神经外科,黑龙江,哈尔滨,150086 6. 北京大学医学部,北京,100083 |
| 基金项目： | 北京市科委重大项目资助(H020920030130) |
| 摘 要： | 目的利用限制性酶切片段长度多态性(RFLP)及变性高效液相色谱法(DHPLC)筛选和鉴定脑胶质瘤易感基因———切除修复鼠缺陷交叉互补基因2 (ERCC2)的单核苷酸多态性(SNPs)。方法应用PCR扩增179例胶质瘤病人肿瘤及血液标本和44例正常对照组血液标本ERCC2基因第23外显子及其邻近的部分内含子序列,采用限制性酶切及DHPLC技术对扩增片段进行基因变异检测,直接测序不同类型的PCR片段,并与参考序列进行对比分析。结果在此片段中验证了一个已知白种人存在的SNP位点。结论黄种人亦存在rs13181,并影响蛋白编码;可能与胶质瘤的发病有关联。DHPLC相对于RFLP来说是一种高效、经济、简便、可靠的SNPs筛选方法。 |
| 关 键 词： | 多态性 限制性酶切片段长度 色谱法 液相 多态性 单核苷酸 神经胶质瘤 基因型 |
| 文章编号： | 1009-122X(2005)04-0164-03 |
| 修稿时间： | 2004年11月22 |
Comparison of screen for single nucleotide polymorphisms of the glioma susceptibility gene-ERCC2 by using denaturing high performance liquid chromatography and restriction fragment length polymorphism |
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| YANG Dong,LI Qingguo,ZHANG Yazhuo,et al..Comparison of screen for single nucleotide polymorphisms of the glioma susceptibility gene-ERCC2 by using denaturing high performance liquid chromatography and restriction fragment length polymorphism[J].Chinese Journal of Minimally Invasive Neurosurgery,2005,10(4):164-166. | |
| Authors: | YANG Dong LI Qingguo ZHANG Yazhuo |
| Institution: | YANG Dong1,LI Qingguo2,ZHANG Yazhuo3,et al1. Department of Neurosurgery,First Affiliated Hospital of Harbin Medical University,Harbin 150001,China, 2. Department of Neurosurgery,Huanhu Hospital of Tianjin,Tianjin 300060,China, 3. Beijing Neurosurgery Institute,Beijing 100083,China |
| Abstract: | Objective To screen single nucleotide polymorphisms (SNPs) of ERCC2 gene by using restriction fragment length polymorphism (RFLP) and denaturing high-performance liquid chromatography (dHPLC). Methods The sequence of 23 exons and the adjacent part of the intron in the ERCC2 gene isolating from the glioma, the blood samples of 179 glioma patients and 44 healthy controls were amplified by PCR, and the products were analyzed by RFLP and dHPLC for the gene mutation detection. Some meaningful fragments were sequenced and compared with the sequences available from National Center for Biotechnology Information (NCBI) database. Results In this study, a SNP locus which is known to exist in White patients with glioma was validated. Conclusion Gene rs13181 also exists in yellow race with the effect on protein coding, and maybe related to the occurrence of glioma. Comparing with RFLP, dHPLC is a highly effective, economical, simple and reliable method for SNPs screening. |
| Keywords: | polymorphism restriction fragment length chromatography liquid polymorphisims single nucleotide glioma genotype |
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