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.

中文翻译：

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考虑非二元 SNP 和表型信息 SNP 的侧翼区域变体构成 30 个微单倍型基因座，以提高法医应用的判别能力

已观察到非二元SNP和表型信息SNP（piSNP）的侧翼区域变体，这可能会大大提高构成微单倍型后的判别能力。在这项研究中，选择了 30 个基于非二元 SNP 和 piSNP（显示与头发和眼睛颜色等表型相关）的微单倍型基因座。对100个无关的北方汉族进行基因分型，并包括来自千人基因组计划的26个群体，用于比较群体分化。进行模拟研究以评估亲属关系测试的效率。我们选择的这 30 个微单倍型基因座具有良好的多态性，平均有效等位基因数 (Ae) 为 3.46。与目标 SNP 相比，平均 Ae 增加为 1.27。来自世界五个地区的人口也可以使用这些基因座进行区分。亲缘关系检测结果表明，这些微单倍型基因座与AmpFlSTR的15个STR基因座具有相似的能力。^R Identifiler ^R PCR Amplification Kit 识别亲生亲本和更强的排除非亲生亲本的能力。因此，这30个微单倍型位点可能具有多功能的法医应用，包括相当于15个STR位点的个人身份识别和亲属关系测试能力，以及区分主要洲际人口的祖先推断能力。此外，我们选择的表型微单倍型基因座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比piSNPs差，不同人群的详细预测准确性需要进一步研究。