首页|32个X-STR荧光复合扩增体系的法医学应用评估(英文)

32个X-STR荧光复合扩增体系的法医学应用评估(英文)

扫码查看
AGCU X Plus STR复合扩增体系是一种可以同时检测X染色体32个基因座分型的新型荧光复合扩增体系,包括DXS6807,DXS9895,X染色体连锁群1(DXS10148,DXS10135,DXS8378),DXS9902,DXS6795,DXS6810,DXS10159,DXS10162,DXS10164,DXS7132,连锁群 2(DXS10079,DXS10074,DXS10075),DXS981,DXS6800,DXS6803,DXS6809,DXS6789,DXS7424,DXS101,DXS7133,GATA172D05,GATA165B12,连锁群 3(DXS10103,HPRTB,DXS10101),GATA31E08 和连锁群 4(DXS8377,DXS10134,DXS7423).相较于传统试剂盒,它不但可以同时检测更多的X染色体基因座分型,提高系统检验效能,而且考虑了基因座之间的连锁关系.为评估该体系在法医学鉴定中的应用效果,本研究根据SWGDAM验证指南,根据扩增电泳条件、种属特异性、灵敏度、抗抑制剂、精确性、可重复性、一致性、混合样本、Stutter峰和群体多态性等指标对该体系进行全方位评估.结果表明,扩增体系的DNA模板量>62.5 pg时,可获得全部的基因座分型结果.混合检材DNA模板量≥1∶3也可获得完整的次要贡献者的基因分型.在群体多态性研究中,选自南方汉族的 209 名无关个体共获得 285 个等位基因,多态信息量(PIC)介于 0.272 1(DXS6800)~0.910 5(DXS10135)之间,平均值为0.679 8.多态性信息量最为丰富的基因座是DXS10135(PIC=0.910 5),个体识别能力在男、女性群体中分别为0.916 4、0.987 1.累积个体识别能力在男性及女性群体中均大于0.999 999 999,在三联体和二联体案件中的累积平均排除概率均大于 0.999 999 999.在 125 名无关男性个体中存在 78 个不同的DXS10103-HPRTB-DXS10101 单倍型,单倍型多样性为 0.981 0.在考虑连锁的情况下,计算出的累积个体识别能力(TPD)、三联体和二联体累积平均排除概率相较未考虑连锁时无明显数量级变化.因此,该体系分型准确、可靠,系统检验效能相较传统试剂盒明显提高,可满足法医学实践的要求,可作为常染色体STR复合扩增体系进行法医学鉴定的有效补充.本研究获得的209名无关个体群体数据可为X-STR检验提供数据参考.
Evaluation of a Novel 32 X-STR Loci Multiplex System in the Forensic Application
The AGCU X Plus STR system is a newly developed multiplex PCR kit that detects 32 X-chromosomal STR loci simultaneously.These are DXS6807,DXS9895,linkage group 1(DXS10148,DXS10135,DXS8378),DXS9902,DXS6795,DXS6810,DXS10159,DXS10162,DXS10164,DXS7132,linkage group 2(DXS10079,DXS10074,DXS10075),DXS981,DXS6800,DXS6803,DXS6809,DXS6789,DXS7424,DXS101,DXS7133,GATA172D05,GATA165B12,linkage group 3(DXS10103,HPRTB,DXS10101),GATA31E08 and linkage group 4(DXS8377,DXS10134,DXS7423).A major advantage of this kit is that it takes into account linkage between loci,in addition to detecting more X-STR loci.In order to evaluate the forensic application of 32 X-STR fluorescence amplification system,PCR settings,sensitivity,species specificity,stability,DNA mixtures,concordance,stutter,sizing precision,and population genetics investigation were evaluated according to the Scientific Working Group on DNA Analysis Methods(SWGDAM)developmental validation guidelines.The study showed that the genotyping results of each locus were significantly accurate when the DNA template was at least 62.5 pg.Complete profiles were obtained for the 1∶1 and 1∶3 combinations.A total of 209 unrelated individuals from Southern Chinese Han community,consisting of 84 females and 125 males,were selected for population studies,and 285 allele profiles were detected from 32 X-STR loci.The polymorphism information content(PIC)ranged from 0.272 1 in DXS6800,to 0.910 5 in DXS10135,with an average of 0.679 8.DXS10135(PIC=0.910 5)was the most polymorphic locus,with discrimination power(DP)of 0.916 4 and 0.987 1 for the male and female.The cumulative PDF,PDM,MECtrio and MECduo values were all greater than 0.999 999 999.There were 78 different DXS10103-HPRTB-DXS10101 haplotypes among the 125 males,and the haplotype diversity was 0.9810.There was no significant difference in the cumulative PDF,PDM,MECtrio and MECduo values whether considering linkage or not.In summary,the new X-STR multiplex typing system is effective and reliable,which can be useful in human genetic analysis and kinship testing as a potent complement to autosomal STR typing.

forensic geneticsX-STR locikinship analysisevaluation

张俊涛、杨幸怡、余政梁、赵鹏、刘大宇、韩晓龙、孙宏钰、刘超

展开 >

中山大学中山医学院法医系,广州 510089

广州市刑事科学技术研究所,广州 510080

公安部鉴定中心,北京 100038

无锡中德美联生物技术有限公司,江苏 无锡 214174

国家毒品实验室广东分中心,广州 510230

展开 >

法医遗传学 X-STR基因座 亲缘鉴定 验证

广州市科技计划项目广东省自然科学基金广东省刑事技术"双十计划"

2017070104862019A15150115272022GDSSGG18

2024

刑事技术
公安部物证鉴定中心

刑事技术

CSTPCD
影响因子:0.315
ISSN:1008-3650
年,卷(期):2024.49(5)