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
短串联重复序列(short tandem repeat,STR)遗传标记在法庭科学DNA鉴定中占据绝对主导地位,包括中国在内的世界各国DNA数据库均基于STR遗传标记建立。STR遗传标记具有长度多态性和序列多态性。序列多态包括重复区和侧翼区序列的多态性。...短串联重复序列(short tandem repeat,STR)遗传标记在法庭科学DNA鉴定中占据绝对主导地位,包括中国在内的世界各国DNA数据库均基于STR遗传标记建立。STR遗传标记具有长度多态性和序列多态性。序列多态包括重复区和侧翼区序列的多态性。传统的基于毛细管电泳技术进行STR分型仅区分长度多态性,而深刻理解核心STR基因座的序列多态对于引物设计和DNA鉴定等方面至关重要。首先,STR扩增引物结合区的SNP、InDel可能干扰引物与DNA模板结合的亲和力,导致无法检测到某些等位基因或均衡性差,影响DNA鉴定准确性;其次,二代测序技术推动STR鉴定由长度多态分型向序列多态分型发展,显著提升了可检测的核心STR基因座多态信息含量,提高了其个体识别和亲缘关系分析效能;再者,不同人群具有不同的STR序列特征。近10年来,基于二代测序的STR序列多态性的研究逐渐增多,多个人群的序列多态性数据已经被报道,但以往的研究群体及数据较为零散,重复序列的数据格式不统一,导致核心STR基因座的序列多态性缺乏来自大数据的系统性总结和梳理。充分掌握核心STR基因座的序列特征对微量检材的个体识别、混合样本拆分、亲子鉴定中突变来源的确定等具有十分重要的意义。本文以19个常染色体核心STR为分析对象,整合了目前文献报道的群体数据和公开数据库中的中国人群变异频率数据,系统综述了这些STR的序列多态性,包括归纳STR基因座重复区的变异类型和分析变异规律,总结了中国人群中STR侧翼区的高频变异,并探讨了在STR序列检验中可能遇到的难点,以期为STR序列的应用解析、案件检验中稀有等位基因的判别以及STR试剂盒的研制等方面提供参考。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.
文摘短串联重复序列(short tandem repeat,STR)遗传标记在法庭科学DNA鉴定中占据绝对主导地位,包括中国在内的世界各国DNA数据库均基于STR遗传标记建立。STR遗传标记具有长度多态性和序列多态性。序列多态包括重复区和侧翼区序列的多态性。传统的基于毛细管电泳技术进行STR分型仅区分长度多态性,而深刻理解核心STR基因座的序列多态对于引物设计和DNA鉴定等方面至关重要。首先,STR扩增引物结合区的SNP、InDel可能干扰引物与DNA模板结合的亲和力,导致无法检测到某些等位基因或均衡性差,影响DNA鉴定准确性;其次,二代测序技术推动STR鉴定由长度多态分型向序列多态分型发展,显著提升了可检测的核心STR基因座多态信息含量,提高了其个体识别和亲缘关系分析效能;再者,不同人群具有不同的STR序列特征。近10年来,基于二代测序的STR序列多态性的研究逐渐增多,多个人群的序列多态性数据已经被报道,但以往的研究群体及数据较为零散,重复序列的数据格式不统一,导致核心STR基因座的序列多态性缺乏来自大数据的系统性总结和梳理。充分掌握核心STR基因座的序列特征对微量检材的个体识别、混合样本拆分、亲子鉴定中突变来源的确定等具有十分重要的意义。本文以19个常染色体核心STR为分析对象,整合了目前文献报道的群体数据和公开数据库中的中国人群变异频率数据,系统综述了这些STR的序列多态性,包括归纳STR基因座重复区的变异类型和分析变异规律,总结了中国人群中STR侧翼区的高频变异,并探讨了在STR序列检验中可能遇到的难点,以期为STR序列的应用解析、案件检验中稀有等位基因的判别以及STR试剂盒的研制等方面提供参考。
