为了探究生活在西藏自治区的藏族人和夏尔巴人的亲缘关系,选取西藏日喀则地区的藏族人225例和夏尔巴人181例,对他们的15个常染色体遗传标记短串联重复序列(short tandem repeat,STRs)进行基因分型,将二者与一些高原人群及世界其他人群...为了探究生活在西藏自治区的藏族人和夏尔巴人的亲缘关系,选取西藏日喀则地区的藏族人225例和夏尔巴人181例,对他们的15个常染色体遗传标记短串联重复序列(short tandem repeat,STRs)进行基因分型,将二者与一些高原人群及世界其他人群进行比对.采用Cervus3.0、Arlequin3.5、Structure2.3.4、R3.0.3、Distruct1.1等统计分析软件,对高原人群的遗传多态性进行分析.在藏族人群中共检测出141个等位基因,频率分布在0.0022~0.6222之间;在夏尔巴人群中共检测出139个等位基因,频率分布在0.0028~0.5691之间.15个位点中,藏族人群的TPOX、D3S1358、TH01位点和夏尔巴人群的D18S51、FGA位点的多态性不高,其余位点均属于高度多态性遗传标记.在STRs遗传结构上,藏族人和夏尔巴人与东亚人群最为接近,与非洲人和欧洲白人相似程度较低.由此认为,藏族人和夏尔巴人都属于东亚人群的一员,高原人群与东亚人群有着共同的遗传结构.展开更多
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
A forensic validation study of the Early Access HuaxiaTM Platinum Polymerase Chain Reaction (PCR) kit was completed to document the performance capabilities and limitations.The genotyping of DNA samples was consistent...A forensic validation study of the Early Access HuaxiaTM Platinum Polymerase Chain Reaction (PCR) kit was completed to document the performance capabilities and limitations.The genotyping of DNA samples was consistent across a large range of template DNA concentrations,with complete profiles obtained at 0.125 ng;however,no more than 2 mm× 1.2 mm punches of samples would be recommended for direct amplification.The size precision and accuracy test revealed the genotyping ability;while consistent results were obtained when comparing the kit with other commercially available systems.In addition,the whole PCR amplification can finish within approximately 45 min,making the system suitable for fastdetection.However,only partial profiles may be obtained with challenging samples,including DNA stored on Foam-Tipped Applicators (FTA) cards or some case samples.For the forensic application in ethnic groups,a total of 282 and 229 alleles were obtained in Han and Mongolia,respectively.Since the 23 short tandem repeats were independent from each other,the cumulative power of exclusion in duos was 0.999999157188 and the cumulative power of exclusion in trios was 0.999999999859 in the Han group while the cumulative power of exclusion in duos (CPEduo) was 0.999 998 848 26 and cumulative power of exclusion in trios (CPEtrio) was 0.999 999 999 79 in the Mongolia group.And good internal consistency was found between the two investigated groups and the Sichuan Han,Hui,Tibetan and Uygur according to available reference data.展开更多
1案例1.1简要案情因诉讼需要,某法院委托本鉴定所对吴某(男,33岁)和双胞胎男孩(吴某郎与吴某易,均为3岁)进行有无亲生血缘关系的鉴定。据法院提供的两子户籍证明及出生证明信息,可明确两者为同母双胞胎。按《亲权鉴定技术规范》(GB/T37...1案例1.1简要案情因诉讼需要,某法院委托本鉴定所对吴某(男,33岁)和双胞胎男孩(吴某郎与吴某易,均为3岁)进行有无亲生血缘关系的鉴定。据法院提供的两子户籍证明及出生证明信息,可明确两者为同母双胞胎。按《亲权鉴定技术规范》(GB/T37223—2018)要求对吴某、吴某郎与吴某易分别采集血样。1.2检验方法1.2.1 DNA提取使用Chelex法提取检材DNA。1.2.2检测过程常染色体STR基因座检测:分别应用Microreader^(TM) 21 ID System和Microreader^(TM) 23sp ID System(北京阅微基因技术股份有限公司)对检材DNA的39个STR基因座和性别基因座复合扩增。展开更多
Short tandem repeats(STRs)play an essential role in forensic genetics due to their high degree of polymorphisms,wide distributions and easy detection method.In this study,allelic frequencies and forensic statistical p...Short tandem repeats(STRs)play an essential role in forensic genetics due to their high degree of polymorphisms,wide distributions and easy detection method.In this study,allelic frequencies and forensic statistical parameters of the 19 autosomal STR loci in a Kazak ethnic group were calculated,and its genetic relationships with reference populations were assessed in order to understand population structure better and enrich population genetic data for forensic practice in Chinese Kazak ethnic group.There were 226 identified alleles with the corresponding allelic frequencies ranging from 0.0008 to 0.5295 in the 628 unrelated healthy Kazak individuals in Xinjiang Uygur Autonomous Region.All autosomal STRs were conformed to the Hardy-Weinberg equilibrium after Bonferroni’s correction.The cumulative power of discrimination and the combined probability of exclusion of all the 19 autosomal STRs were 0.999999999999999999999997162 and 0.999999994484,respectively.Furthermore,the DA distances and Fixation index values of pairwise populations,principal component analysis,multidimensional scaling analysis,phylogenetic tree analysis and structure analysis were conducted to probe the genetic relationships between the Kazak group and other reference populations.The population genetic results showed that these 19 autosomal STR loci were characterised by high genetic diversities in the Kazak group.Furthermore,the studied Kazak group had close genetic relationships with the Uyghur group and the Uzbek group.The present results may facilitate understanding the genetic background of the Chinese Xinjiang Kazak group.展开更多
This article describes a newly devised autosomal short tandem repeat(STR)multiplex polymer-ase chain reaction(PCR)system for 19 autosomal loci(D12S391,D13S317,D16S539,D18S51,D19S433,D2S1338,D21S11,D3S1358,D5S818,D6S10...This article describes a newly devised autosomal short tandem repeat(STR)multiplex polymer-ase chain reaction(PCR)system for 19 autosomal loci(D12S391,D13S317,D16S539,D18S51,D19S433,D2S1338,D21S11,D3S1358,D5S818,D6S1043,D7S820,D8S1179,CSF1PO,FGA,TH01,TPOX,vWA,Penta D and Penta E),27 Y-chromosome STR loci(DYS19,DYS385,DYS3891,DYS38911,DYS390,DYS391,DYS392,DYS393,DYS437,DYS438,DYS439,DYS448,DYS449,DYS456,DYS458,DYS460,DYS481,DYS518,DYS533,DYS570,DYS576,DYS635,DYS627,YGATAH4 and DYF387S1)and amelogenin with six-colour fluorescent labelling.Various parameters were evaluated,such as its accuracy,sensitivity,specificity,stability,ability to ana-lysis of mixtures and effects of changes in the PCR-based procedures.All of the 47 selected STR loci were accurately and robustly amplified from 282 bloodstain samples.The species-spe-cificity was high and some ability to inhibit Hematin was identified.The lowest detectable DNA amount was ≥0.125 ng.All of the male loci of the secondary component were revealed precisely when the control DNA was mixed at male/female and male/male ratios of 1:4 or more.We conclude that the present 19-plex autosomal STR and 27 Y-STR assay is both accur-ate and sensitive.It constitutes an additional powerful tool for forensic applications.展开更多
目的:调查19个STR基因座在贵州[亻革]家人人群中的遗传多态性分布,为其民族识别提供生物学依据。方法:应用ABI9700型扩增仪和基点认知公司Goldeneye 20A荧光复合扩增系统对106个[亻革]家人无关个体19个STR基因座进行复合扩增,ABI3100型...目的:调查19个STR基因座在贵州[亻革]家人人群中的遗传多态性分布,为其民族识别提供生物学依据。方法:应用ABI9700型扩增仪和基点认知公司Goldeneye 20A荧光复合扩增系统对106个[亻革]家人无关个体19个STR基因座进行复合扩增,ABI3100型遗传分析仪进行毛细管电泳,GeneMapper ID3.2软件进行基因分型,Modified-Powerstates软件对有关群体遗传学数据进行统计分析。结果:19个STR基因座共检出173个等位基因和497种基因型,其分布符合Hardy-Weinberg平衡定律(P>0.05);杂合度(Heterozygotes,H)为0.585~0.906,亲权指数(typical paternity index,PI)为1.20~5.30,个体识别率(Power of Discrimination,DP)为0.747~0.964,非父排除率(power of exclusion,PE)为0.273~0.769,多态信息含量(polymorphism information content,PIC)为0.50~0.90。结论:19个STR基因座除CSF1PO、TPOX、TH01、D13S317、D7S820、D16S539外,其余具有高度多态性,并在法医学个体识别和亲权鉴定中具有较高的应用价值。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
文摘为了探究生活在西藏自治区的藏族人和夏尔巴人的亲缘关系,选取西藏日喀则地区的藏族人225例和夏尔巴人181例,对他们的15个常染色体遗传标记短串联重复序列(short tandem repeat,STRs)进行基因分型,将二者与一些高原人群及世界其他人群进行比对.采用Cervus3.0、Arlequin3.5、Structure2.3.4、R3.0.3、Distruct1.1等统计分析软件,对高原人群的遗传多态性进行分析.在藏族人群中共检测出141个等位基因,频率分布在0.0022~0.6222之间;在夏尔巴人群中共检测出139个等位基因,频率分布在0.0028~0.5691之间.15个位点中,藏族人群的TPOX、D3S1358、TH01位点和夏尔巴人群的D18S51、FGA位点的多态性不高,其余位点均属于高度多态性遗传标记.在STRs遗传结构上,藏族人和夏尔巴人与东亚人群最为接近,与非洲人和欧洲白人相似程度较低.由此认为,藏族人和夏尔巴人都属于东亚人群的一员,高原人群与东亚人群有着共同的遗传结构.
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。
基金This study was supported by grants from the National Key R&D Program of China[grant number 2016YFC0800703]the National Natural Science Fund of China[grant numbers 81625013 and 81772028]+2 种基金the Shanghai Technology Stan-dard Programme[grant number 16DZ0501600]the Shang-hai Key Laboratory of Forensic Medicine[grant number 17DZ2273200]the Shanghai Forensic Service Platform[grant number 16DZ2290900].
文摘A forensic validation study of the Early Access HuaxiaTM Platinum Polymerase Chain Reaction (PCR) kit was completed to document the performance capabilities and limitations.The genotyping of DNA samples was consistent across a large range of template DNA concentrations,with complete profiles obtained at 0.125 ng;however,no more than 2 mm× 1.2 mm punches of samples would be recommended for direct amplification.The size precision and accuracy test revealed the genotyping ability;while consistent results were obtained when comparing the kit with other commercially available systems.In addition,the whole PCR amplification can finish within approximately 45 min,making the system suitable for fastdetection.However,only partial profiles may be obtained with challenging samples,including DNA stored on Foam-Tipped Applicators (FTA) cards or some case samples.For the forensic application in ethnic groups,a total of 282 and 229 alleles were obtained in Han and Mongolia,respectively.Since the 23 short tandem repeats were independent from each other,the cumulative power of exclusion in duos was 0.999999157188 and the cumulative power of exclusion in trios was 0.999999999859 in the Han group while the cumulative power of exclusion in duos (CPEduo) was 0.999 998 848 26 and cumulative power of exclusion in trios (CPEtrio) was 0.999 999 999 79 in the Mongolia group.And good internal consistency was found between the two investigated groups and the Sichuan Han,Hui,Tibetan and Uygur according to available reference data.
文摘1案例1.1简要案情因诉讼需要,某法院委托本鉴定所对吴某(男,33岁)和双胞胎男孩(吴某郎与吴某易,均为3岁)进行有无亲生血缘关系的鉴定。据法院提供的两子户籍证明及出生证明信息,可明确两者为同母双胞胎。按《亲权鉴定技术规范》(GB/T37223—2018)要求对吴某、吴某郎与吴某易分别采集血样。1.2检验方法1.2.1 DNA提取使用Chelex法提取检材DNA。1.2.2检测过程常染色体STR基因座检测:分别应用Microreader^(TM) 21 ID System和Microreader^(TM) 23sp ID System(北京阅微基因技术股份有限公司)对检材DNA的39个STR基因座和性别基因座复合扩增。
文摘Short tandem repeats(STRs)play an essential role in forensic genetics due to their high degree of polymorphisms,wide distributions and easy detection method.In this study,allelic frequencies and forensic statistical parameters of the 19 autosomal STR loci in a Kazak ethnic group were calculated,and its genetic relationships with reference populations were assessed in order to understand population structure better and enrich population genetic data for forensic practice in Chinese Kazak ethnic group.There were 226 identified alleles with the corresponding allelic frequencies ranging from 0.0008 to 0.5295 in the 628 unrelated healthy Kazak individuals in Xinjiang Uygur Autonomous Region.All autosomal STRs were conformed to the Hardy-Weinberg equilibrium after Bonferroni’s correction.The cumulative power of discrimination and the combined probability of exclusion of all the 19 autosomal STRs were 0.999999999999999999999997162 and 0.999999994484,respectively.Furthermore,the DA distances and Fixation index values of pairwise populations,principal component analysis,multidimensional scaling analysis,phylogenetic tree analysis and structure analysis were conducted to probe the genetic relationships between the Kazak group and other reference populations.The population genetic results showed that these 19 autosomal STR loci were characterised by high genetic diversities in the Kazak group.Furthermore,the studied Kazak group had close genetic relationships with the Uyghur group and the Uzbek group.The present results may facilitate understanding the genetic background of the Chinese Xinjiang Kazak group.
文摘This article describes a newly devised autosomal short tandem repeat(STR)multiplex polymer-ase chain reaction(PCR)system for 19 autosomal loci(D12S391,D13S317,D16S539,D18S51,D19S433,D2S1338,D21S11,D3S1358,D5S818,D6S1043,D7S820,D8S1179,CSF1PO,FGA,TH01,TPOX,vWA,Penta D and Penta E),27 Y-chromosome STR loci(DYS19,DYS385,DYS3891,DYS38911,DYS390,DYS391,DYS392,DYS393,DYS437,DYS438,DYS439,DYS448,DYS449,DYS456,DYS458,DYS460,DYS481,DYS518,DYS533,DYS570,DYS576,DYS635,DYS627,YGATAH4 and DYF387S1)and amelogenin with six-colour fluorescent labelling.Various parameters were evaluated,such as its accuracy,sensitivity,specificity,stability,ability to ana-lysis of mixtures and effects of changes in the PCR-based procedures.All of the 47 selected STR loci were accurately and robustly amplified from 282 bloodstain samples.The species-spe-cificity was high and some ability to inhibit Hematin was identified.The lowest detectable DNA amount was ≥0.125 ng.All of the male loci of the secondary component were revealed precisely when the control DNA was mixed at male/female and male/male ratios of 1:4 or more.We conclude that the present 19-plex autosomal STR and 27 Y-STR assay is both accur-ate and sensitive.It constitutes an additional powerful tool for forensic applications.
文摘目的:调查19个STR基因座在贵州[亻革]家人人群中的遗传多态性分布,为其民族识别提供生物学依据。方法:应用ABI9700型扩增仪和基点认知公司Goldeneye 20A荧光复合扩增系统对106个[亻革]家人无关个体19个STR基因座进行复合扩增,ABI3100型遗传分析仪进行毛细管电泳,GeneMapper ID3.2软件进行基因分型,Modified-Powerstates软件对有关群体遗传学数据进行统计分析。结果:19个STR基因座共检出173个等位基因和497种基因型,其分布符合Hardy-Weinberg平衡定律(P>0.05);杂合度(Heterozygotes,H)为0.585~0.906,亲权指数(typical paternity index,PI)为1.20~5.30,个体识别率(Power of Discrimination,DP)为0.747~0.964,非父排除率(power of exclusion,PE)为0.273~0.769,多态信息含量(polymorphism information content,PIC)为0.50~0.90。结论:19个STR基因座除CSF1PO、TPOX、TH01、D13S317、D7S820、D16S539外,其余具有高度多态性,并在法医学个体识别和亲权鉴定中具有较高的应用价值。
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。