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基于 HapMap 和 1000 基因组数据库的全基因组通用个体识别 SNP 筛查。

Genome-wide screen for universal individual identification SNPs based on the HapMap and 1000 Genomes databases.

机构信息

Faculty of Forensic Medicine, Zhongshan School of Medicine, Sun Yat-Sen University, Guangzhou, 510080, China.

Guangdong Province Translational Forensic Medicine Engineering Technology Research Center, Sun Yat-Sen University, Guangzhou, 510080, China.

出版信息

Sci Rep. 2018 Apr 3;8(1):5553. doi: 10.1038/s41598-018-23888-0.

Abstract

Differences among SNP panels for individual identification in SNP-selecting and populations led to few common SNPs, compromising their universal applicability. To screen all universal SNPs, we performed a genome-wide SNP mining in multiple populations based on HapMap and 1000Genomes databases. SNPs with high minor allele frequencies (MAF) in 37 populations were selected. With MAF from ≥0.35 to ≥0.43, the number of selected SNPs decreased from 2769 to 0. A total of 117 SNPs with MAF ≥0.39 have no linkage disequilibrium with each other in every population. For 116 of the 117 SNPs, cumulative match probability (CMP) ranged from 2.01 × 10-48 to 1.93 × 10-50 and cumulative exclusion probability (CEP) ranged from 0.9999999996653 to 0.9999999999945. In 134 tested Han samples, 110 of the 117 SNPs remained within high MAF and conformed to Hardy-Weinberg equilibrium, with CMP = 4.70 × 10-47 and CEP = 0.999999999862. By analyzing the same number of autosomal SNPs as in the HID-Ion AmpliSeq Identity Panel, i.e. 90 randomized out of the 110 SNPs, our panel yielded preferable CMP and CEP. Taken together, the 110-SNPs panel is advantageous for forensic test, and this study provided plenty of highly informative SNPs for compiling final universal panels.

摘要

SNP 面板在 SNP 选择和人群中的个体识别存在差异,导致很少有常见的 SNP,从而影响其通用性。为了筛选所有通用 SNP,我们基于 HapMap 和 1000Genomes 数据库在多个群体中进行了全基因组 SNP 挖掘。选择在 37 个人群中具有高次要等位基因频率 (MAF) 的 SNP。当 MAF 从≥0.35 增加到≥0.43 时,所选 SNP 的数量从 2769 个减少到 0 个。在每个群体中,有 117 个 MAF≥0.39 的 SNP 彼此之间没有连锁不平衡。对于 117 个 SNP 中的 116 个,累积匹配概率 (CMP) 范围从 2.01×10-48 到 1.93×10-50,累积排除概率 (CEP) 范围从 0.9999999996653 到 0.9999999999945。在 134 个测试的汉族样本中,117 个 SNP 中有 110 个保持在高 MAF 范围内并符合 Hardy-Weinberg 平衡,CMP=4.70×10-47,CEP=0.999999999862。通过分析与 HID-Ion AmpliSeq Identity 面板中相同数量的常染色体 SNP,即 110 个 SNP 中的 90 个随机 SNP,我们的面板产生了更好的 CMP 和 CEP。综上所述,110-SNP 面板有利于法医检验,本研究为最终通用面板的编制提供了大量信息丰富的 SNP。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9673/5882920/2b20eb493481/41598_2018_23888_Fig1_HTML.jpg

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