PDF(Pubmed)
Abstract：
With the widespread use of the Y chromosome in genetics, a lot of commercially available Y chromosome kits were developed, validated, and applied to forensic science practice. The AGCU YNFS Y Kit is a new Y chromosome system containing forty-four preferred Y short tandem repeats (Y-STRs) and five common Y-InDels. In this study, the AGCU YNFS Y system was validated to verify its performance by following the guidelines of the Scientific Working Group on DNA Analysis Methods (SWGDAM). A series of validation experiments included the following parameters: PCR-based studies, sensitivity studies, species specificity studies, stability studies, mixture studies, precision studies, stutter calculation, mutation and statistical analysis, population study, and case samples and degradation studies. The results suggested that appropriately changing PCR amplification conditions did not affect genotyping; the kit had good sensitivity for trace amounts of DNA (0.0625 ng), mixtures of multiple male individuals (minor: major = 1: 9), and three PCR inhibitors (more than 250 μM hematin, 250 ng/μL humic acid and 50 ng/μL tannic acid). The maximum standard deviation of allele size did not exceed 0.1552 reflecting the high accuracy of the system. By this, 87 DNA-confirmed pairs of father-son pairs were also analyzed for mutations. A total of 18 loci were mutated, with mutation rates ranging from 11.5×10-3 to 34.5×10-3 (95% CI 7.2×10-3-97.5×10-3, DYS627 and DYF404S1). In the population study, the haplotype diversity of 87 unrelated individuals was 0.9997, and discrimination capacity was 0.9885. Degradation studies have demonstrated that UV-C light exposure for up to 120 hours has no effect on male blood and semen-vaginal secretion mixtures. However, complete typing could no longer be obtained after 48 hours of UV exposure in single male saliva and in male saliva and female blood mixed samples. Collectively, the AGCU YNFS Y Kit is sensitive and accurate and can play its application value in forensic science practice.
摘要：
跟着Y染色体在遗传学中的普遍运用，开发了许多市售的Y染色体试剂盒，已验证，并应用于法医学实践。AGCUYNFSY试剂盒是一种新的Y染色体系统，包含44个优选的Y短串联重复序列（Y-STR）和5个常见的Y-InDel。在这项研究中,按照DNA分析方法科学工作组(SWGDAM)的指南对AGCUYNFSY系统进行了验证,以验证其性能.一系列验证实验包括以下参数：基于PCR的研究，敏感性研究，物种特异性研究，稳定性研究，混合研究，精度研究，口吃计算,突变和统计分析，人口研究,以及案例样本和降解研究。结果表明，适当改变PCR扩增条件不影响基因分型；该试剂盒对痕量DNA（0.0625ng）具有良好的灵敏度，多个男性个体的混合物（次要：主要=1：9），和三种PCR抑制剂(超过250μM血色素，250ng/μL腐殖酸和50ng/μL单宁酸)。等位基因大小的最大标准偏差不超过0.1552，反映了系统的高精度。通过这个，还分析了87对DNA确认的父子对的突变。共有18个基因座发生突变,突变率为11.5×10-3至34.5×10-3（95%CI7.2×10-3-97.5×10-3，DYS627和DYF404S1）。在人口研究中,87个无关个体的单倍型多样性为0.9997，辨别能力为0.9885。降解研究表明，UV-C光暴露长达120小时对男性血液和精液-阴道分泌物混合物没有影响。然而,在单个男性唾液以及男性唾液和女性血液混合样品中，紫外线暴露48小时后，无法再获得完整的分型。总的来说，AGCUYNFSYKit灵敏、准确，可在法医学实践中发挥其应用价值。
