Selection of 29 highly informative InDel markers for human identification and paternity analysis in Chinese Han population by the SNPlex genotyping system
Selection of 29 highly informative InDel markers for human identification and paternity analysis in Chinese Han population by the SNPlex genotyping system
复制标题
通过 SNPlex 基因分型系统选择 29 个信息丰富的 InDel 标记用于中国汉族人群的人类鉴定和亲子关系分析
DOI：
10.1007/s11033-011-1080-z
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发表时间：
2012-03-01
影响因子：
2.8
通讯作者：
Zhao, Shumin
中科院分区：
文献类型：
--
作者：
Li, Chengtao;Zhang, Suhua;Zhao, Shumin
单核苷酸多态性（single nucleotide polymorphism，SNP）因其具有低突变率、易于高通量自动化平台检测以及在降解样品分析中的应用前景等优点而受到法医学研究者的关注。本文从dbSNP中筛选出29个高信息量的插入/缺失（InDel，一种特殊的SNP）标记， http://www.ncbi.nlm.nih.gov/SNP/ ）根据给定的标准。用SNPs基因分型系统对109名无关的中国汉族受试者进行29个InDel基因分型。等位基因频率数据显示，29个InDel标记的综合鉴别力为0.99999999990867，父权排除（PE）的综合概率为0.9930。进行了灵敏度研究，以评价SNPs基因分型系统在29个InDel组上的灵活性。结果表明，基因组DNA加入量为40-100 ng时，扩增结果重复性好，当DNA加入量低于35 ng时，总等位基因插入比例显著增加。这些结果表明，29个InDel的集合是有用的，在未来的亲子关系分析或人类识别。
The interest of forensic researchers in single nucleotide polymorphism (SNP) has been attracted because of its potential advantages, such as low mutation rates, amenable to high-throughput automated platform and the improved application in the analysis of degraded samples. In this paper, 29 highly informative insertion/deletion (InDel, a special kind of SNP) markers were selected from the dbSNP ( http://www.ncbi.nlm.nih.gov/SNP/ ) according to the given criteria. 109 unrelated Chinese Han subjects were genotyped for the 29 InDels with SNPlex genotyping system. The allele frequency data revealed that the combined power of discrimination for the 29 InDel markers was 0.999999999990867 and the combined probability of paternity exclusion (PE) was 0.9930. Sensitivity studies were performed to evaluate the flexibility of the SNPlex genotyping system on the set of 29 InDels. Highly reproducible results could be obtained with 40–100 ng genomic DNA and the proportion of total allele drop-in was significantly increased when the amount of DNA added to PCR was lower than 35 ng. These results suggested that the set of 29 InDels was useful in paternity analysis or human identification in the future.