目的评价Microreader^(TM)23HS Plex ID System试剂盒中包含的23个常染色体STR基因座在中国北方汉族人群中等位基因频率分布,获得群体遗传数据,探究其在法医学中的应用价值。方法使用Microreader^(TM)23HS Plex ID System试剂盒对中国...目的评价Microreader^(TM)23HS Plex ID System试剂盒中包含的23个常染色体STR基因座在中国北方汉族人群中等位基因频率分布,获得群体遗传数据,探究其在法医学中的应用价值。方法使用Microreader^(TM)23HS Plex ID System试剂盒对中国北方汉族人群548例无关样本DNA进行检测,收集分型数据,计算各基因座的等位基因频率、样本的杂合度(heterozygosity,H)、这些常染色体STR基因座的多态信息含量(polymorphism information content,PIC)、个体识别力(power of discrimination,DP)和非父排除率(probability of paternity exclusion,PE)并使用统计软件对各基因座是否符合Hardy-Weinberg平衡进行检验;同时对Microreader^(TM)23HS Plex ID System的累积个体识别能力(CDP)和累积非父排除率(CPE)进行计算。结果在548例无关样本中23个STR基因座共计检出260个等位基因,等位基因频率为0.0009~0.5902,H为0.611~0.885,PIC为0.577~0.864,DP为0.815~0.973(平均DP为0.922),PE为0.089~0.406,CDP=1-3.663×10^(-27),CPE=1-2.668×10^(-16),所有基因座等位基因的分布符合Hardy-Weinberg平衡。结论Microreader^(TM)23HS Plex ID System的23个基因座在中国北方汉族人群中具有良好的多态性,在法医学个人识别、群体遗传学研究、亲子鉴定,特别是复杂亲缘关系鉴定中应用价值较高。展开更多
流产组织胎儿STR(short tandem repeats)分型检测长久以来始终是法医DNA检验面临的一大难题,对于孕早期流产组织无法通过组织形态学检验获取绒毛组织时,母体与胎儿混合STR分型结果可以为强奸致孕案件嫌疑人认定提供关键依据。本研究应...流产组织胎儿STR(short tandem repeats)分型检测长久以来始终是法医DNA检验面临的一大难题,对于孕早期流产组织无法通过组织形态学检验获取绒毛组织时,母体与胎儿混合STR分型结果可以为强奸致孕案件嫌疑人认定提供关键依据。本研究应用新一代测序技术,在4份强奸致孕早期流产组织中成功检出母体与疑似胎儿混合STR分型或疑似胎儿单一STR分型,与Y-STR、侧翼序列信息联合应用,为嫌疑人认定提供了更为全面可靠的遗传学依据。展开更多
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,DXS1...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 fl uorescence amplifi cation system,PCR settings,sensitivity,species specifi city,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 signifi cantly accurate when the DNA template was at least 62.5 pg.Complete profi les 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 profi les were detected from 32 X-STR loci.The polymorphism information content(PIC)ranged from 0.2721 in DXS6800,to 0.9105 in DXS10135,with an average of 0.6798.DXS10135(PIC=0.9105)was the most polymorphic locus,with discrimination power(DP)of 0.9164 and 0.9871 for the male and female.The cumulative PD_(F),PD_(M),MEC_(trio) and MEC_(duo) valu es were all greater than 0.999999999.There were 78 different DXS10103-HPRTB-DXS10101 haplotypes among the 125 males,and the haplotype diversity was 0.9810.There was no signifi cant difference in the cumulative PD_(F),PD_(M),MEC_(trio) and MEC_(duo) 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.展开更多
在法庭科学领域推进相关有证标准物质的研制和应用,对建设DNA分析的标准化体系具有重要意义。当前不断涌现新的DNA检验方法,并迅速应用于刑事案件调查,现行方法的有效性和准确性需要标准物质开展认证与验证。DNA STR(short tandem repe...在法庭科学领域推进相关有证标准物质的研制和应用,对建设DNA分析的标准化体系具有重要意义。当前不断涌现新的DNA检验方法,并迅速应用于刑事案件调查,现行方法的有效性和准确性需要标准物质开展认证与验证。DNA STR(short tandem repeat)分型检验是当前法庭科学进行个体身份识别和亲缘关系判断的主要依据,有证DNA标准物质是实现不同实验室间信息资源共享,保障STR分型结果准确可比的标尺。概述了STR检验技术及其过程中使用的国内外标准品和标准物质,并对我国构建STR检验的标准物质体系提出了建议和展望。展开更多
为了评估法医学DNA数据库建设中涉及的59个Y-STR基因座的遗传多态性和法医学应用效能,通过AGCU Y SUPP PLUS试剂盒和AGCU Y37试剂盒检测374个广东汉族无关男性个体,将检测出的59个Y-STR基因座按照突变率的高低进行分类组合和统计分析。...为了评估法医学DNA数据库建设中涉及的59个Y-STR基因座的遗传多态性和法医学应用效能,通过AGCU Y SUPP PLUS试剂盒和AGCU Y37试剂盒检测374个广东汉族无关男性个体,将检测出的59个Y-STR基因座按照突变率的高低进行分类组合和统计分析。结果显示,59个Y-STR基因座联合运用在374个无关男性个体中检出了374个单倍型,其中44个中低突变Y-STR组合、15个高快突变Y-STR组合分别检出373和372个单倍型。59个Y-STR的基因多态性数值分布在0.0551(DYS645)~0.9580(DYF387S1 a/b)之间。结果表明,这59个Y-STR在广东汉族群体中均具有良好的多态性,按中低突变Y-STR组合和高快突变Y-STR组合研发新的检测体系可更好地满足法医实践的不同需求。展开更多
在法医DNA分析领域,混合短串联重复序列(short tandem repeats,STR)图谱的分析一直是研究难点。当前,国内主要依靠法医进行人工分析,不仅效率低下,分析结果还存在着主观性偏好,难以满足日益增长的STR图谱分析的需求。本文提出一种新的混...在法医DNA分析领域,混合短串联重复序列(short tandem repeats,STR)图谱的分析一直是研究难点。当前,国内主要依靠法医进行人工分析,不仅效率低下,分析结果还存在着主观性偏好,难以满足日益增长的STR图谱分析的需求。本文提出一种新的混合STR图谱分析方法——全局最小残差法,不仅可以计算出分析结果,还可以预测出每个组分的混合比例。该方法首先给混合比例赋予了新的定义,然后对等位基因模型进行优化,进而综合考虑STR图谱中的所有基因座,将每个基因座的残差值进行累加求和,选择累加和最小的混合比例作为推断结果,并使用灰狼优化算法快速寻找混合比例的最优值。对于二组分STR图谱,全局最小残差法能够兼顾分析的准确性和分析速度,有利于实现大量的图谱分析。本文提出的算法在实际应用中取得了不错的效果,具有较高的应用价值,可为混合STR图谱分析领域的研究提供新的解决方案。展开更多
文摘目的评价Microreader^(TM)23HS Plex ID System试剂盒中包含的23个常染色体STR基因座在中国北方汉族人群中等位基因频率分布,获得群体遗传数据,探究其在法医学中的应用价值。方法使用Microreader^(TM)23HS Plex ID System试剂盒对中国北方汉族人群548例无关样本DNA进行检测,收集分型数据,计算各基因座的等位基因频率、样本的杂合度(heterozygosity,H)、这些常染色体STR基因座的多态信息含量(polymorphism information content,PIC)、个体识别力(power of discrimination,DP)和非父排除率(probability of paternity exclusion,PE)并使用统计软件对各基因座是否符合Hardy-Weinberg平衡进行检验;同时对Microreader^(TM)23HS Plex ID System的累积个体识别能力(CDP)和累积非父排除率(CPE)进行计算。结果在548例无关样本中23个STR基因座共计检出260个等位基因,等位基因频率为0.0009~0.5902,H为0.611~0.885,PIC为0.577~0.864,DP为0.815~0.973(平均DP为0.922),PE为0.089~0.406,CDP=1-3.663×10^(-27),CPE=1-2.668×10^(-16),所有基因座等位基因的分布符合Hardy-Weinberg平衡。结论Microreader^(TM)23HS Plex ID System的23个基因座在中国北方汉族人群中具有良好的多态性,在法医学个人识别、群体遗传学研究、亲子鉴定,特别是复杂亲缘关系鉴定中应用价值较高。
文摘流产组织胎儿STR(short tandem repeats)分型检测长久以来始终是法医DNA检验面临的一大难题,对于孕早期流产组织无法通过组织形态学检验获取绒毛组织时,母体与胎儿混合STR分型结果可以为强奸致孕案件嫌疑人认定提供关键依据。本研究应用新一代测序技术,在4份强奸致孕早期流产组织中成功检出母体与疑似胎儿混合STR分型或疑似胎儿单一STR分型,与Y-STR、侧翼序列信息联合应用,为嫌疑人认定提供了更为全面可靠的遗传学依据。
文摘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 fl uorescence amplifi cation system,PCR settings,sensitivity,species specifi city,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 signifi cantly accurate when the DNA template was at least 62.5 pg.Complete profi les 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 profi les were detected from 32 X-STR loci.The polymorphism information content(PIC)ranged from 0.2721 in DXS6800,to 0.9105 in DXS10135,with an average of 0.6798.DXS10135(PIC=0.9105)was the most polymorphic locus,with discrimination power(DP)of 0.9164 and 0.9871 for the male and female.The cumulative PD_(F),PD_(M),MEC_(trio) and MEC_(duo) valu es were all greater than 0.999999999.There were 78 different DXS10103-HPRTB-DXS10101 haplotypes among the 125 males,and the haplotype diversity was 0.9810.There was no signifi cant difference in the cumulative PD_(F),PD_(M),MEC_(trio) and MEC_(duo) 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.
文摘在法庭科学领域推进相关有证标准物质的研制和应用,对建设DNA分析的标准化体系具有重要意义。当前不断涌现新的DNA检验方法,并迅速应用于刑事案件调查,现行方法的有效性和准确性需要标准物质开展认证与验证。DNA STR(short tandem repeat)分型检验是当前法庭科学进行个体身份识别和亲缘关系判断的主要依据,有证DNA标准物质是实现不同实验室间信息资源共享,保障STR分型结果准确可比的标尺。概述了STR检验技术及其过程中使用的国内外标准品和标准物质,并对我国构建STR检验的标准物质体系提出了建议和展望。
文摘在法医DNA分析领域,混合短串联重复序列(short tandem repeats,STR)图谱的分析一直是研究难点。当前,国内主要依靠法医进行人工分析,不仅效率低下,分析结果还存在着主观性偏好,难以满足日益增长的STR图谱分析的需求。本文提出一种新的混合STR图谱分析方法——全局最小残差法,不仅可以计算出分析结果,还可以预测出每个组分的混合比例。该方法首先给混合比例赋予了新的定义,然后对等位基因模型进行优化,进而综合考虑STR图谱中的所有基因座,将每个基因座的残差值进行累加求和,选择累加和最小的混合比例作为推断结果,并使用灰狼优化算法快速寻找混合比例的最优值。对于二组分STR图谱,全局最小残差法能够兼顾分析的准确性和分析速度,有利于实现大量的图谱分析。本文提出的算法在实际应用中取得了不错的效果,具有较高的应用价值,可为混合STR图谱分析领域的研究提供新的解决方案。
