通用个体识别SNPs在中国多民族中的分布及确证研究

项目名称： 通用个体识别SNPs在中国多民族中的分布及确证研究

项目编号： No.31071100

项目类型： 面上项目

立项/批准年度： 2011

项目学科： 金属学与金属工艺

项目作者： 曾昭书

作者单位： 郑州大学

项目金额： 8万元

中文摘要： SNPs（单核苷酸多态性）因其突变率低、可对严重降解的DNA检材进行成功分析等特点，有望弥补当前广泛应用的STRs分型技术的缺点而成为新的法医学个体识别工具。当前这方面的研究蓬勃兴起，欧洲SNPforID项目推荐的52个SNPs和美国Kidd教授等推荐的92个SNPs已被证明通用程度较高。在前一青年基金项目的支持下，本课题组依据HapMap数据库（r27）（含世界11个人群或1000余人份全基因组SNPs分型结果）自主筛选了96个SNPs并检测其在汉、蒙、藏族中的频率分布，得到了国际同行的肯定。在本项目执行期间，进一步完成了该96SNPs的实验结果分析；结合其在汉、蒙、藏的实验数据和对HapMap(r28)数据的筛选，对原96SNPs中的部分SNPs进行了更新；并应用该自主筛选的96个SNPs在亲权鉴定方面进行了实验检测和数据分析。在构建该96SNPs的一次性扩增和快速分型平台方面，进一步明确了以分子倒置探针（MIPs）结合SNaPshot的技术路径，并进行实验，获得了以MIPs扩增待检基因组DNA的初步结果。此外还采集新疆维吾尔族人血样近200份，哈萨克族近100例。

中文关键词： 个体识别；单核苷酸多态性；HapMap；分子倒置探针；SNaPshot

英文摘要： SNPs (Single Nucleotide Polymorphism) are expected to become a new tool for forensic individual identification because of their advantages including low mutation rates, successful analysis on seriously degraded DNA samples, which can make up the shortcomings of the currently wide used forensic STR typing technique. Current researches in this area are booming, among which the 52 SNPs recommended by the Europe SNPforID project and the 92 SNPs recommended by Professor Kidd's lab at Yale University have been proved to be quite universal among human populations world-wide. With the support from NSFC, our last NSFC-Youth Fund project has finished the task of genome-wide selecting 96 SNPs for human individual identification based on the HapMap database (r27) (including 11 world populations or more than 1,000 genome-wide SNPs genotyping results), and tested such 96 SNPs among the Hans, Mongolians, Tibetans with Illumina Beadarray. The allele frequencies of these SNPs are balanced around 0.50/0.50, and that work has gain international peer recognition. During the execution of this project, we finished the further analysis on the experimental results of the 96SNPs; we updated such 96 SNPs based on the experimental data from the Hans, Mongolians, Tibetans as well as on the HapMap (r28) data screening results. During the execuation of this project, we finished 3 cases of paternity testing with the former 96 SNPs, including the experimental tests and data analysis. In the endeavour of constructing a platform for a simultaneous amplification of the 96 SNPs and their rapid genotyping, we became more confident in combining the SNaPshot technique to the molecular inversion probes (MIPs) technique. Some primary experiments for the MIP technique has been done to obtain enough SNP-containing DNA templates from genomic DNA. We also obtained about 200 cases of Uygur blood samples and nearly 100 cases of Kazakh blood samples from Xinjiang during the execution period of this project.

英文关键词： individual identification; Single Nucleotide Polymorphism (SNP); HapMap; molecular inversion probes; SNaPshot