高个体识别力通用单核苷酸多态性位点筛选及检测
发布时间：2018-07-20 11:50
【摘要】：目的:在全基因组中查找能够在世界各大人群中通用的高个体识别力单核苷酸多态性(SNPs)位点,以期为SNPs应用于法医学个体识别奠定基础。方法:从国际人类基因组单体型图计划(HapMap)数据库下载270名个体各约4000000个全基因组SNPs分型数据,运用自主编写的计算机程序,按照较小等位基因频率(MAF)≥0.45的原则提取在中国北京汉族人群、日本东京人群、尼日利亚约鲁巴人群以及美国白人人群中同时存在的SNPs,以焦磷酸测序技术对其中的rs4607417和rs749305在河南汉族人群(n=144)中进行群体遗传学调查,计算Hardy-Weinberg平衡概率(HWP)、杂合度(Het)、多态信息含量(PIC)和个体识别力(DP),并与HapMap的数据(n=45)进行比较。结果:共找到1439个通用的SNPs。在河南汉族人群中,rs4607417和rs749305的HWP分别为0.872和0.423,Het分别为0.476和0.524,PIC分别为0.384和0.388,DP分别为0.616和0.612。与4个人群相比,仅在rs4607417上其等位基因频率与日本东京人群差异有统计学意义(χ2=5.068,P=0.024)。结论:rs4607417和rs749305是通用的高个体识别力SNPs;前述筛选获得的1439个SNPs具有高度可靠性和可信度,可用作在世界各人群中通用的个体识别核心SNPs。
[Abstract]:Objective: to search for single nucleotide polymorphisms (SNPs) of high individual recognition ability in the whole genome in order to lay a foundation for the application of SNPs in forensic individual recognition. Methods: from the database of the International Human Genome haplotype Map (HapMap), we downloaded about 4000000 genome-wide SNPs typing data from each of 270 individuals, and used a computer program written by ourselves. According to the principle of lower allelic frequency (MAF) 鈮，
本文编号：2133422
[Abstract]:Objective: to search for single nucleotide polymorphisms (SNPs) of high individual recognition ability in the whole genome in order to lay a foundation for the application of SNPs in forensic individual recognition. Methods: from the database of the International Human Genome haplotype Map (HapMap), we downloaded about 4000000 genome-wide SNPs typing data from each of 270 individuals, and used a computer program written by ourselves. According to the principle of lower allelic frequency (MAF) 鈮，
本文编号：2133422
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