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生物质谱作为SNP分型检测方法的研究
引用本文:杨何义,蔡耘,王杰,周钢桥,贺福初,钱小红. 生物质谱作为SNP分型检测方法的研究[J]. 质谱学报, 2003, 24(4): 449-449
作者姓名:杨何义  蔡耘  王杰  周钢桥  贺福初  钱小红
作者单位:1. 军事医学科学院放射医学研究所基因和蛋白组,北京,100850;国家人类基因组北方研究中心,北京,100176
2. 军事医学科学院放射医学研究所基因和蛋白组,北京,100850
3. 军事医学科学院国家生物医学分析中心,北京,100850
基金项目:“十五“86 3计划资助项目 ( 2 0 0 1AA2 2 4 0 11)
摘    要:利用改良的 Miller法从人血中提取人类基因组 DNA。采用聚合酶链式反应 ( Polymerase chain reac-tion,PCR) ,对含有单核苷酸多态性 ( SNP)点的 DNA片段进行扩增 ,然后用 CIP和 Eox I去除掉 PCR体系中剩余的脱氧核糖核苷三磷酸 ( d NTP)和引物 ,最后用单碱基延伸反应获得 SNP位点处碱基类型。用基质辅助激光解吸电离 -飞行时间质谱 ( MALDI-TOFMS)或电喷雾电离 -四极杆飞行时间质谱 ( ESI-Qq TOFMS)检测延伸产物与未延伸引物间的分子量差异 ,确定该点处碱基。对不同的生物质谱检方法以及生物质谱检测方法与其它检测方法的优缺点进行了分析比较

关 键 词:质谱学  单核苷酸多态性(SNP)分型  基质辅助激光解吸电离-飞行时间质谱(MALDI-TOFMS)  电喷雾电离-四极杆飞行时间质谱(ESI-QqTOFMS)   
文章编号:1004-2997(2003)04-449-07
收稿时间:2003-02-17
修稿时间:2003-02-17

Study on Single Nucleotide Polymorphisms Genotyping by Bio-Mass Spectrometry
YANG He yi ,,CAI Yun ,WANG Jie ,ZHOU Gang qiao ,,HE Fu chu ,QIAN Xiao hong. Study on Single Nucleotide Polymorphisms Genotyping by Bio-Mass Spectrometry[J]. Journal of Chinese Mass Spectrometry Society, 2003, 24(4): 449-449
Authors:YANG He yi     CAI Yun   WANG Jie   ZHOU Gang qiao     HE Fu chu   QIAN Xiao hong
Affiliation:YANG He yi 1,2,CAI Yun 1,WANG Jie 3,ZHOU Gang qiao 1,2,HE Fu chu 1,QIAN Xiao hong
Abstract:The deoxyribonucleic acid (DNA) in the human genome was extracted from the human blood by the improved Miller method. The DNA fragments including SNP loci were amplified, and the remaining dNTPs and primers were digested using CIP and Exo I. Then the base on the SNP loci was determined by the single base extension reaction. Finally, the base was identified from the molecular weight difference between the extension product and extension primer by bio mass spectrometry (MALDI TOFMS or ESI QqTOFMS). The advantages and disadvantages of the different bio mass spectrometry including MALDI TOFMS and ESI QqTOFMS used to measure SNP genotyping were discussed,and different bio mass spectrometry methods with the other current detecting methods used to detecting SNP genotyping was compared.
Keywords:mass spectrometry  single nucleotide polymorphism(SNP) genotyping  MALDI TOFMS  ESI QqTOFMS
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