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双语推荐：法医遗传学

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目的调查广西白裤瑶族群体中DYS287基因位点的遗传多态性分布。方法采用聚合酶链反应结合琼脂糖凝胶电泳检测方法对132例白裤瑶族、149例壮族、172例汉族样本DYS287位点多态性进行检测分析。结果 132例白裤瑶族、149例壮族和172例汉族男性个体检测结果均为YAP-,未检出YAP+扩增产物。结论获得广西白裤瑶族DYS287基因座的遗传学多态性数据,为不同地域不同瑶族群体遗传关系的分析、法医鉴定及不同地域瑶族群体之间的起源关系差异提供了一定的遗传背景资料。
Objective To survey the polymorphism of DYS287 locus in male Yao nationality in Guangxi. Methods The polymorphism of DYS287 locus in 172 Hans,149 Zhuangs and 135 Yaoes were analyzed by PCR and agarose gel electrophoresis. Results The test results of 132 males of Bai Ku Yao,149 males of Zhuang and 172 males of Han males showed that they were negative YAP - ,no positive amplication product of YAP. Conclusion The genetic data of DYS287 locus of male Yao nationality had been obtained,and it is beneficial for analysis of genetic re-lationship between different groups in different geographical origin of Yao nationality,and it provides the genetic background and relationship be-tween forensic identification and different regional Yao groups.

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目的对X染色体上的插入/缺失(Insertion/Deletion,InDel)遗传标记进行研究,筛选18个基因座建立可用于中国汉族人群法医DNA鉴定的辅助分型系统。方法采用人类基因组浏览器和dbSNP数据库筛选得到18个X-InDel基因座,用Primer 3软件包设计多重复合扩增PCR引物,依据扩增片段长度分为3组,分别用FAM、HEX和TAMRA三种荧光素标记,建立多重PCR体系。对中国汉族和主要的四大少数民族(回族、维族、蒙古族和藏族)进行群体遗传学调查及对比分析。结果成功研制了一个包含18个X-InDel基因座和Amelogenin性别鉴定基因座的复合荧光多重PCR扩增体系,命名为InDel X-18PLEX系统。多态性调查显示这18个X-InDel基因座在5个主要民族中等位基因频率分布符合Hardy-Weinberg平衡,但各等位基因的频率分布差异具有统计学意义。在中国汉族人群中,该系统在女性群体和男性群体的累积个人识别率分别为0.999999 4、0.99988,在三联体和二联体的累积平均排除率分别为0.999992和0.99。结论 InDel X-18PLEX系统能够满足成为法医DNA鉴定辅助性试剂盒的要求,可以成为部分疑难案件的补充分析工具。
Objective To investigate Insertion/Deletion (InDel) polymorphism on the X chromosome and to screen 18 InDel loci for the Chinese Han population as a forensic DNA typing system auxiliary. Meth-ods Eighteen X-InDel markers were selected using the Human Genome Browser and dbSNP database. Multiplex PCR primer pairs of selected X-InDel markers were designed using Primer 3 software and di-vided into 3 groups according to the amplified fragment length, labeled by FAM, HEX and TAMRA fluorescence dye, respectively. The population genetics research and comparative analysis of Chinese Han nationality and 4 main minorities, the Hui, Wei, Mongol, and Tibetan nationalities, were investigated with the system. Results A new multiplex genotyping system, named InDel X-18PLEX, was successfully developed and validated, consisted of 18 X-InDel markers on the X chromosome and 1 Amelogenin gen-der marker. No deviation from Hardy-Weinberg equilibrium expectations was detected in the distribution of genotypes

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目的：分析温州汉族人群9个STR基因座（D18S1364、D12S391、D13S325、D6S1043、D2S1172、D11S2368、D22-GATA198B05、D8S1132、D7S3048）的等位基因及基因型频率分布。方法：从无血缘关系的355例温州汉族个体的抗凝血中提取DNA，用STR_Typer_10_v1试剂盒对9个STR基因座进行复合PCR扩增，用AB公司310遗传分析仪和GeneMapper ID 3.2v软件作STR分型，用PowerState V12.xls分析软件进行等位基因频率和法医学常用参数统计分析。结果：该9个基因座检出15、12、9、17、15、13、11、10、12个等位基因，9个基因座基因型频率分布均符合Hardy-Weignberg平衡（P＞0.05）；观测杂合度大于0.7831，多态信息含量均大于0.7666，个体识别能力（Dp）均大于0.9266。结论：温州汉族人群的9个基因座均具有较高的遗传多态性，是较理想的遗传标记系统，本研究所得数据可为温州汉族人群法医个体识别、亲权鉴定及遗传学研究提供依据。
Objective:To analyze the alleles and genotype frequencies of nine short tandem repeats loci, those are D18S1364, D12S391, D13S325, D6S1043, D2S1172, D11S2368, D22-GATA198B05, D8S1132, D7S3048, of Han Ethnic Population in Wenzhou. Methods:extract DNA respectively from anticoagulant of 355 unrelated individual samples of Han Ethnic population living in Wenzhou. Deal the nine STR loci of the samples with multiple PCR ampliifcation by STR_Typer_10_v1 kit. Analyze the PCR products by 310 genetic analyzer and GeneMapper ID 3.2v software of AB company. Deal the results with statistical analysis on the allele frequen-cy and common forensic parameters by PowerState V12.xls software. Results:15, 12, 9, 17, 15, 13, 11, 10 and 12 alleles were observed respectively from the nine STR loci. The distribution of genotype frequencies matched the Hardy-Weinberg equilibrium, P was more than 0.05. The heterozygote was more than 0.7831. The poly-morphism information content was more than 0.7666. T

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目的 应用GFS 24Y试剂盒,对中国广东汉族和新疆维吾尔族共584个无关男性样本进行24个Y-STR基因座分型,统计其基因座、单倍型的遗传多态性,并分析其群体差异.方法 采用磁珠法提取样本DNA后用GFS24Y试剂盒扩增,3130XL遗传分析仪进行基因分型,根据分型结果进行统计分析.结果 获得了中国广东汉族与新疆维吾尔族共584个样本24个Y-STR基因座的分型结果及各等位基因频率分布资料.在广东汉族群体中,各基因座的基因多样性(GD值)为0.560 6～0.963 9,由24个基因座组成的单倍型共有299个,单倍型多样性(HD值)为0.999 93;在新疆维吾尔族中,GD值为0.443 9～0.957 9,共观察到282个单倍型,HD值为0.999 85.两个民族未观察到共有单倍型.通过两个群体间的比较,共有22个Y-STR基因座等位基因频率分布在两个民族之间存在差异(P＜0.05),各基因座在两个民族的遗传分化系数(Fst值)为0.000 767 9(DYS481)～0.247 946(DYS520).结论 24个Y-STR基因座在中国广东汉族与新疆维吾尔族人群中均有较高的多态性,并显示出明显的民族特征,在法医亲权鉴定和个体识别、群体遗传学等领域均有重要的应用价值.
Objective To investigate the genetic polymorphism of 24 Y-STR loci and haplotypes in Guangdong Han and Xinjiang Uighur population.Methods The blood samples of 584 unrelated healthy male individuals from 300 Chinese Guangdong Han and 284 Xinjiang Uighur populations were enrolled in the present study.Automatic platform was employed to perform DNA preparation with magnetic beads method and then 24 Y-STR loci were amplified with GFS 24 Y STR Amplification Kit System.The PCR products were used for genotyping with 3130XL Genetic Analyzer.Results The information of allele distribution and gene diversity of the 24 Y-STR loci was obtained from 584 unrelated males from the studied populations.In Chinese Guangdong Han,the genetic diversity (GD) value of the single Y-STR locus was 0.560 6～0.963 9;299 haplotypes of 24 Y-STRs were found and the haplotype diversity (HD) value was 0.999 93.In Xinjiang Uighur,the GD value of the single Y-STR locus was 0.443 9～0.957 9;282 haplotypes of 24 Y-

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