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
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
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
本文报道应用荧光标记 STR_s 复合扩增及荧光 DNA 自动分析技术,对含有大面积混合血痕的生物检材进行鉴定的方法。根据犯罪嫌疑人和被害人基因型差异大的特点,选取等量血痕混合后进行 PCR 扩增,成功地解决了大量混合血痕的 DNA 鉴定分析...本文报道应用荧光标记 STR_s 复合扩增及荧光 DNA 自动分析技术,对含有大面积混合血痕的生物检材进行鉴定的方法。根据犯罪嫌疑人和被害人基因型差异大的特点,选取等量血痕混合后进行 PCR 扩增,成功地解决了大量混合血痕的 DNA 鉴定分析,并进行个体识别案例。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.
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.
