【摘要】 目的 通过二代测序技术构建人类SNP遗传标记检测体系，并对体系性能进行验证。方法 基于多重PCR扩增捕获技术开发出一套包含621个常染色体SNPs和398个Y染色体SNPs的检测体系，用于个体的精准识别。并从整体的覆盖度和均衡性、准确性、灵敏度、重复性、模拟降解检材、检材类型适用性、种属特异性、混合样本区分等方面对该体系进行了全面的评估。结果 本体系表现出较高的覆盖度、均一性和准确性。体系在起始DNA量为0.062 5 ng时能够检测到> 1 000 SNPs位点。在合适的起始量下本体系对降解检材有较高的检出效率。不同人员间、不同PCR仪器间的重复性均为99.7%，展现出较好的重复性。适用于法医常见检材，具有很高的特异性，对非人源样本均无位点检出。在男女混合比例为1∶20或20∶1时，仍能将单一样本和混合样本区分开。结论 本体系的分型准确性和重复性好，灵敏度高，检测通量大，对降解检材和混合样本的检出能力较强，能有效排除非人源物种的干扰，提高个体识别能力。更多还原

【Abstract】 Objective Construct a human SNP genetic marker detection system using next generation sequencing technology and validate the system performance. Methods Based on multiple PCR amplification and capture technology,a set of detection system containing 621 autosomal SNPs and 398 Y chromosome SNPs was developed for accurate identification of individuals. To comprehensively evaluate the performance of the system, research was conducted on the overall coverage and balance, accuracy, sensitivity, repeatability, simulated degradation of samples, suitability of sample types, species specificity, mixed sample differentiation of the panel and so on. Results This system showed high coverage,uniformity and accuracy. when the input DNA was 0.062 5 ng, The system could detect more than 1 000 SNPs sites.And the system has a high detection efficiency for degradation test materials under the appropriate starting quantity. The repeatability between different personnel and different PCR instruments was 99.7 %, indicating good repeatability. It is suitable for common forensic test materials, has high specificity, and has no spot detection for non-human samples in the test environment. When the gender ratio is 1 ∶ 20 or 20 ∶ 1, a single sample and mixed samples can still be distinguished.Conclusion The system has good classification accuracy and repeatability, with high sensitivity and high detection flux.It has strong detection ability for degraded and mixed samples, and can effectively eliminate interference from non-human species, improving individual recognition ability.更多还原