27-plex SNPs系统推断未知DNA供者洲际人群来源效能的研究

发布时间：2018-02-10 11:38

本文关键词： 法医物证学 SNP 祖先信息位点种族来源推断　出处：《南方医科大学》2017年硕士论文　论文类型：学位论文

【摘要】：目的:对筛选的一组祖先信息性SNPs位点并基于SNaPshotTM技术构建的27-plex SNPs复合扩增系统进行优化,评估27-plex SNPs复合扩增系统的灵敏度和种属特异性,应用27-plex SNPs复合扩增系统分析不同人群的遗传成分构成与群体来源,验证27-plex SNPs复合扩增系统推断种族来源的效能。方法:对27-plex SNPs复合扩增系统的PCR引物浓度和延伸引物浓度进行进一步优化,验证27-plex SNPs复合扩增系统的灵敏度和种属特异性;用该系统检测非洲、华南地区汉族、回族、苗族、彝族、藏族、维族、欧洲、中亚、西亚、南亚、东南亚、南美洲等13个人群的533份样本,将其分型数据与HapMap数据库的东亚(CHB)、欧洲(CEU)、非洲(YRI)3个代表人群的分型数据进行聚类分析。通过Structure软件分析获取个体的祖先来源成分和人群的成分构成,结合构建的数据库计算匹配概率;判断46份盲测样本的种族来源。结果:获得27-plex SNPs复合扩增系统最佳的PCR引物浓度和延伸引物浓度;该系统灵敏度达0.125ng;除猩猩和猴子分别检出20和6个位点,其余动物样本除rs10496971位点外均未见扩增产物;该系统可以进行洲际人群区分,但是无法区分东南亚与东亚人群,无法细分广东汉族与彝族、回族、苗族和藏族等少数民族人群;盲测样本洲际人群推断的准确率为100%。结论:27-plex SNP复合扩增系统灵敏度高、特异性好,可准确区分个体的东亚、非洲或欧洲祖先成分,为侦破案件提供重要的线索。但该系统不具备亚人群区分效力,有待后续筛选更多的特异性祖先信息标记,以满足区分东南亚人群以及中国不同族群的需要。
[Abstract]:Objective: to optimize the 27-plex SNPs multiplex amplification system based on SNaPshotTM and to evaluate the sensitivity and species specificity of 27-plex SNPs multiplex amplification system. The genetic composition and population origin of different populations were analyzed by 27-plex SNPs multiplex amplification system. Methods: to optimize the PCR primer concentration and extension primer concentration of 27-plex SNPs multiplex amplification system, and verify the sensitivity and species specificity of 27-plex SNPs multiplex amplification system. The system was used to detect 533 samples from 13 populations in Africa, South China, Han, Hui, Miao, Yi, Tibetan, Uygur, Europe, Central Asia, West Asia, South Asia, Southeast Asia and South America. The genotyping data were analyzed by cluster analysis with the classification data of three representative populations in HapMap database, such as HapMap database. The origin components of individual ancestors and the composition of human population were analyzed by Structure software. The matching probability was calculated based on the constructed database, and the ethnic origin of 46 blind samples was determined. Results: the optimal PCR primer concentration and extension primer concentration of 27-plex SNPs compound amplification system were obtained. The sensitivity of the system was 0.125 ng; except for orangutans and monkeys, 20 and 6 loci were detected respectively, and no amplification products were found in other animal samples except for rs10496971 loci. The system could be used for intercontinental population differentiation, but could not distinguish Southeast Asian and East Asian populations. It is impossible to subdivide the Han nationality, Yi nationality, Hui nationality, Miao nationality and Tibetan nationality in Guangdong, and the accuracy of intercontinental population inference is 1000.Conclusion the multiplex SNP amplification system has high sensitivity and specificity, and can accurately distinguish the individual in East Asia. The African or European ancestry component provides important clues for the detection of cases. But the system does not have subpopulation-specific effects, pending further screening of specific ancestral information markers. To meet the needs of distinguishing Southeast Asian and different ethnic groups in China.
【学位授予单位】：南方医科大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：D919

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