Ion Ampliseq HID Y-SNP Research Panel V1试剂盒的法医学验证  

Forensic Validation of the Ion AmpliSeq HID Y-SNP Research Panel V1 Kit

作　　者：蔡信 王凯旋 缪路 朱久亮 刁中杰 吴静 徐伟[1] CAI Xin;WANG Kaixuan;MIAO Lu;ZHU Jiuliang;DIAO Zhongjie;WU Jing;XU Wei(Criminal Investigation Detachment of Huainan Public Security Bureau,Huainan 232000,Anhui,China;Anhui Hopegenerich Biotechnology Co.LTD,Hefei 230031,China)

机构地区：[1]淮南市公安局刑侦支队,安徽淮南232000 [2]安徽宏健瑞齐生物科技有限公司,合肥230031

出　　处：《刑事技术》2023年第6期602-609,共8页Forensic Science and Technology

摘　　要：为了测试Ion Ampliseq HID Y-SNP Research Panel V1试剂盒的技术性能指标,评估其法医学应用价值,本研究从测序表现、重复性和灵敏度等方面对该试剂盒进行测试,并采用该试剂盒对一个家系中44份遗传关系清晰但存在Y-STR突变的样本进行检测。测序结果表明,每轮测序均产生了不低于1.97 Gb的数据,序列比中率超过99%,平均有845个(98.37%)Y-SNP位点可用于后续分析,测序结果可靠。标准品DNA 9948的分型准确,结果一致,重复性好,灵敏度可低至100 pg。所有检测的家系样本均可获得高分辨率的一致性Y-SNP单倍群。综上,Ion Ampliseq HID Y-SNP Research Panel V1试剂盒的测序质量优良,灵敏度高,重复性好,可作为家系排查的补充手段之一。Detecting of the single-nucleotide po lymorphisms of Y-chromosome(Y-SNP)is particularly useful in the identification of paternal lineages for forensic evidences under investigation.To evaluate the technical performance in Y-SNP detection and its forensic applicability of the Ion AmpliSeq HID Y-SNP Research Panel V1 Kit,this study tested the kit from the aspects of sequencing performance,repeatability and sensitivity using pedigree samples and the Control DNA 9948.Forty four samples from one male family with clear genetic relationships but have Y-STR mutations were detected by Ion AmpliSeq HID Y-SNP Research Panel V1 Kit on the Ion GeneStudio S5 Plus next generation sequencing platform,and serials diluted 9948 DNA samples were al so sequenced in parallel.The sequencing results showed that each run of sequencing produced no less than1.97 Gb of data,more than 99%of the sequences in alignment.An average of 845 Y-SNP(98.37%)loci could be used for subsequent analysis,and the sequencing results were proved to be reliable.The Y-SNP sequencing results of the Control DNA 9948 were consistent,repeatable,and the sensitivity of this Y-SNP detecting kit could be as low as 100 pg.High resolution Y-SNP haplogroups were obtained for all the pedigree samples tested,and the Y-SNP haplogroup analysis results were consistent.Therefore,the Ion Ampliseq HID Y-SNP Research Panel V1 Kit has excellent sequencing performance,high sensitivity and good repeatability,and can be used as a supplementary method for pedigree screening in forensic casework.

关 键 词：法医遗传学 家系排查 单倍群 Y染色体单核苷酸多态性 二代测序 

分 类 号：DF795.2[医药卫生—法医学]