27重SNP系统推断种族来源的效能
发布时间：2019-06-09 15:32
【摘要】：目的验证和评估27-plex SNPs复合扩增系统(简称27重SNP系统)推断种族来源的效能。方法验证27重SNP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、维吾尔族、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Hap Map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,分析祖先成分,计算匹配概率;分析46份盲测样本的种族来源。结果该系统灵敏度达0.125 ng;除猩猩和猴子分别检出20和6个位点,其余动物样本仅在rs10496971位点检出扩增产物;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重SNP系统灵敏度高、特异性好,可准确区分个体的非洲、欧洲或东亚祖先成分。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 verify and evaluate the effectiveness of 27-plex SNPs compound amplification system (abbreviated as 27 SNP system) in inferred racial origin. Methods the sensitivity and species specificity of 27 multiple SNP system were verified. The system was used to detect 533 samples from 13 populations of Han nationality, Hui, Miao, Yi, Tibetan, Uygur, Europe, Central Asia, West Asia, South Asia, Southeast Asia and South America in Africa and South China. The classification data were analyzed with the classification data of three representative populations of East Asian (CHB), European (CEU), Africa (YRI) in Hap Map database, and the ancestor components were analyzed and the matching probability was calculated. The ethnic origin of 46 blind samples was analyzed. Results the sensitivity of the system was 0.125 ng;, 20 and 6 loci were detected in orangutan and monkey, respectively, and only amplification products were detected in other animal samples at rs10496971 site. The system can distinguish the intercontinental population, but it can not distinguish the Southeast Asian population from the East Asian population, and can not subdivide the Guangdong Han and Yi, Hui, Miao and Tibetan ethnic minorities. The accuracy of the blind test sample intercontinental population inference is 100%. Conclusion the 27 SNP system has high sensitivity and specificity, and can accurately distinguish the ancestral components of individuals from Africa, Europe or East Asia. The system does not have the effect of subpopulation differentiation, and more specific ancestor information markers need to be screened in order to meet the needs of distinguishing Southeast Asian people from different ethnic groups in China.
【作者单位】： 南方医科大学法医学院;公安部物证鉴定中心//现场物证溯源国家工程实验室//法医遗传学公安部重点实验室;广州市刑事科学技术研究所//广东省法医遗传学重点实验室;天津医科大学;
【基金】：法医遗传学公安部重点实验室开放课题(2015FGKFKT03) “十二五”国家科技支撑计划项目(2012BAK02B01-1)
【分类号】：D919
本文编号：2495660
[Abstract]:Objective to verify and evaluate the effectiveness of 27-plex SNPs compound amplification system (abbreviated as 27 SNP system) in inferred racial origin. Methods the sensitivity and species specificity of 27 multiple SNP system were verified. The system was used to detect 533 samples from 13 populations of Han nationality, Hui, Miao, Yi, Tibetan, Uygur, Europe, Central Asia, West Asia, South Asia, Southeast Asia and South America in Africa and South China. The classification data were analyzed with the classification data of three representative populations of East Asian (CHB), European (CEU), Africa (YRI) in Hap Map database, and the ancestor components were analyzed and the matching probability was calculated. The ethnic origin of 46 blind samples was analyzed. Results the sensitivity of the system was 0.125 ng;, 20 and 6 loci were detected in orangutan and monkey, respectively, and only amplification products were detected in other animal samples at rs10496971 site. The system can distinguish the intercontinental population, but it can not distinguish the Southeast Asian population from the East Asian population, and can not subdivide the Guangdong Han and Yi, Hui, Miao and Tibetan ethnic minorities. The accuracy of the blind test sample intercontinental population inference is 100%. Conclusion the 27 SNP system has high sensitivity and specificity, and can accurately distinguish the ancestral components of individuals from Africa, Europe or East Asia. The system does not have the effect of subpopulation differentiation, and more specific ancestor information markers need to be screened in order to meet the needs of distinguishing Southeast Asian people from different ethnic groups in China.
【作者单位】： 南方医科大学法医学院;公安部物证鉴定中心//现场物证溯源国家工程实验室//法医遗传学公安部重点实验室;广州市刑事科学技术研究所//广东省法医遗传学重点实验室;天津医科大学;
【基金】：法医遗传学公安部重点实验室开放课题(2015FGKFKT03) “十二五”国家科技支撑计划项目(2012BAK02B01-1)
【分类号】：D919
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