Considering the flanking region variants of nonbinary SNP and phenotype-informative SNP to constitute 30 microhaplotype loci for increasing the discriminative ability of forensic applications
Considering the flanking region variants of nonbinary SNP and phenotype-informative SNP to constitute 30 microhaplotype loci for increasing the discriminative ability of forensic applications
复制标题
考虑非二元SNP和表型信息性SNP的侧翼区域变异，构成30个微单倍型位点，以提高法医应用的判别能力
DOI：
10.1002/elps.202000341
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发表时间：
2021-02-05
期刊：
影响因子：
2.9
通讯作者：
Zha, Lagabaiyila
中科院分区：
文献类型：
--
作者：
Wen, Dan;Sun, Shule;Zha, Lagabaiyila
非二元snp和表型信息型snp （piSNPs）的侧翼区变异已被观察到，这可能大大提高了构成微单倍型后的辨别能力。本研究选择了30个基于非二元SNPs和piSNPs的微单倍型位点（显示与头发和眼睛颜色等表型相关）。对100个无亲缘关系的北方汉族群体进行了基因分型，并纳入了“千人基因组计划”中的26个群体进行群体分化比较。为了评估亲属关系检测的效率，进行了模拟研究。30个微单倍型位点多态性良好，平均有效等位基因数（Ae）为3.46个。与目标snp相比，平均Ae增加1.27。利用这些位点也可以区分世界上五个地区的种群。亲缘关系检测结果表明，这些微单倍型位点与AmpFlSTR(R) Identifiler(R) PCR Amplification Kit的15个STR位点具有相似的识别亲生亲本的能力，对非亲生亲本的排除能力更强。因此，这30个微单倍型基因座可能具有多种法医应用功能，包括相当于15个STR基因座的个人识别和亲属关系测试能力，以及区分主要洲际人群的祖先推断能力。此外，我们选择的表型微单倍型位点理论上可能具有表型预测能力。但这些表型微单倍型位点的表型预测效率可能不如piSNPs，对不同群体的详细预测精度有待进一步研究。
The flanking region variants of nonbinary SNPs and phenotype-informative SNPs (piSNPs) have been observed, which may greatly improve the discriminative ability after constituting microhaplotype. In this study, 30 microhaplotype loci based on the nonbinary SNPs and piSNPs (shown to be related to phenotypes such as hair and eye color) were selected. Genotyping were conducted on 100 unrelated northern Han Chinese, and the 26 populations from the 1000 Genome Project were also included for comparison of populations differentiation. The simulated study was conducted for evaluating the efficiency of kinship testing. These 30 microhaplotype loci we selected had good polymorphism, with a mean effective number of alleles (Ae) of 3.46. The average Ae increase was 1.27 compared with the target SNPs. The populations from the five regions worldwide could also be distinguished using these loci. The results of kinship testing showed that these microhaplotype loci had the similar ability as 15 STR loci of AmpFlSTR(R) Identifiler(R) PCR Amplification Kit to identify the biological parent and a stronger ability to exclude the nonbiological parents. So, these 30 microhaplotype loci may be multifunctional for forensic application, including the ability of personal identification and kinship testing equivalent to 15 STR loci, and the power of ancestry inference for distinguishing the main intercontinental population. Moreover, our selected phenotypic microhaplotype loci may theoretically have phenotype prediction capabilities. But the phenotype prediction efficiency of these phenotypic microhaplotype loci may be worse than that of piSNPs and the detailed prediction accuracy of different populations needs to be further studied.