7个Y-STR基因座单倍型及其法医学应用

目的调查7个Y-STR基因座单倍型及其法医学应用。方法利用二组复合扩增体系,(Ⅰ:DYS391、GATA-A4、GATA-A10和GATA-H4;Ⅱ:DYS439、DYS437和DYS434)检测7个Y染色体特异性的STR基因座,并用聚丙烯酰胺凝胶电泳和银染显色技术进行基因分型。结果在广东汉族372名无关男性个体中,二组7个基因座分别检出5、7、6、5和6、4、4个等位基因,共检出254种单倍型,其中201种为唯一的。单倍型基因多样性为0.9960。结论7个Y-STR基因座具有很高的识别能力,对建立Y染色体STR数据库,研究群体遗传学和进行法医学鉴定有重要意义。     

12个Y-STR基因座单倍型及其应用

<正>Y染色体遗传标记以单倍型的形式存在于男性，呈父系遗传。在一些特殊的亲权纠纷案，如对有争议的父子、爷孙、叔侄等确定是否有亲缘关系的鉴定时有独特的作用。为此，本文作者研制了3组复合扩增     

用Y-STR单倍型推断男性个体来源的分析

目的 利用17个Y-STR单倍型数据,推断分析浙江绍兴地区男性个体来源,为Y-STR数据库的建设与应用提供依据.方法 采集绍兴地区6县(市)区,104个镇(乡),1240个村的138个姓氏家族的7384份男性个体血样.采用YfilerTM复合扩增试剂盒进行17个Y-STR分型,所得数据进行县(市/区)/镇(乡/街道)/村/姓氏的组合和县(市/区)/镇(乡/街道)/村/姓氏/单倍型组合分布情况统计分析.结果 在7384份男性样本中,获得2 486种县(市/区)/镇(乡/街道)/村/姓氏组合,4957种县(市/区)/镇(乡/街道)/村/姓氏/单倍型组合,3149种Y-STR单倍型.其单倍型出现的次数从1至52次不等,其中仅出现1次的有2 471种(78.47％).对出现频率为17～ 52次的单倍型数据进行姓氏分析,发现平均有71.0％ (42.9％ ～87.5％)的人员来自同一姓氏,且在地域上多数为相邻镇或村的同姓人员.结论 利用Yfiler系统的17个Y-STR基因座单倍型数据,可以推断浙江绍兴地区男性个体的地域或姓氏来源.     

甘肃临夏回族群体8个Y-STR基因座单倍型频率调查

<正>目前,由8个微卫星组成的Y-STR单倍型系列已经成为欧洲法医学领域推荐使用的核心单倍型,获得了广泛的使用,回族是我国人口数量仅次于汉族的少数民族,据2000年第五次人口普查的结果,甘肃回族1184930人,是拥有回族人口最多的省份,选择临夏回族为研究样本具有很好的代表性。我们运用国际法医学界推荐的"最小单倍型"共7个微卫星基因座(DYS19,DYS389I,DYS389II,DYS390,DYS391,DYS392,DYS393)和一个高多态性微卫星基因座DYS385,得出和评价了回族这8个Y-STR的单倍型数据,现报道如下。     

藏族群体7个Y-STR基因座及单倍型的遗传多态性

目的调查藏族Y染色体7个STR基因座及单倍型的遗传多态性。方法应用PCR、变性聚丙烯酰胺凝胶电泳结合银染显色分型技术,检测67例藏族男性DNA样品。结果在DYS393、DYS389Ⅰ、DYS19、DYS390、DYS389Ⅱ、DYS392等6个基因座中共检出25个等位基因,DYS385基因座检出22个等位基因组,频率分布在0.0149～0.5075之间,各基因座DP值分布在0.5075～0.8991之间,以DYS385基因座最高。由7个基因座组成的YH6系统单倍型有51种,DP值为0.9887,DYS393与DYS389Ⅱ基因座等位基因少,推测藏族群体在进化过程中可能发生过瓶颈事件。结论上述7个STR基因座属于高鉴别能力基因座,单倍型具有很高的遗传多态性。     

中国汉族人群10个Y-染色体STR单倍型

Y染色体STR单倍型分析除了用于人类迁徙、种系发生和群体遗传学研究,还能在法医学鉴定方面发挥一定的作用,例如性侵害案件中混合样品分析、男性无精子精斑DNA检验和缺乏嫌疑父亲的亲权鉴定等.国内关于Y染色体单个或多个STR基因座的频率虽有研究报道,但多个基因座的单倍型统计数据较为少见.     

EA-YPredictor:基于Y-STR数据的家系特异性单倍群归属判别分析软件

目的Y染色体为男性所特有,其遗传标记蕴含着丰富的生物地理信息,故可溯源家系,在嫌疑人排查和追踪中发挥作用。Y-STR突变率较高,而Y-SNP突变率极低,几乎不会发生回复突变,所以后代男性群体携带祖先特有的Y-SNP。本研究期望通过现在我国Y库建设中通用的17个Y-STR的单倍型数据预测Y-SNP单倍群细支。方法基于前期观察,选取千人基因组计划III期中的513例东亚人群(中国及周边区域)作为基础数据集,在Java平台和Microsoft Excel软件框架下,以遗传距离计算和Y染色体进化树构建手段相联合研发Y-STR数据的家系特异性单倍群归属判别分析软件:EA-YPredictor。结果本研究揭示了15个单倍群大支下的核心单倍型。通过随机选取70个公开数据库样本,EA-YPredictor软件预测准确性达到92.8%(95%置信区间:[84.1%,97.6%])。结论在Y-SNP复合扩增检测尚无定论的情况下,本软件可基于二代测序样本对Y-STR数据库样本进行单倍群细支的准确预测,能适用于辅助家系单倍群判断。随着测序技术的不断换代和优化,更多高通量的Y-STR和Y-SNP数据补充将会使本软件进一步优化。此外,本软件对于Y数据库中Y-SNP遗传标记的筛查建库有一定指向作用。     

5个Y-STR基因座复合扩增及其单倍型

多个Y STR基因座复合扩增在国内外已得到应用[1、2 ] 。本文作者报道用银染法复合扩增DYS389II、DYS389I、DYS390、GATA A7 2和DYS393等 5个Y STR基因座 ,并对广东汉族 4 15名无关男性个体进行基因分型调查。1　材料和方法1 1　材料4 15份广东汉族无关男性个体血样来自本室日常检案标本 ,用Chelex 10 0法提取DNA。1 2　引物序列DYS389Ⅱ、DYS389Ⅰ、DYS390、GATA A7 2和DYS393等 5个基因座引物序列见文献 [3、 4 ],由上海生物工程有限公司合成。1 3　PCR扩增条件总体积 2 5 μl,内含dNTP 4 2 0 μmol/L ,MgCl23 0mm…     

利用Y-STR单倍型推断样品间亲缘关系

目的通过对Y-STR单倍型的分析,推测不同样品间的亲缘关系远近。方法对郑州地区某单一姓氏男性182人取外周血,以Yfiler Plus试剂盒进行Y-STR基因座分型;以Arlequin分析单倍型多态性;以Network软件构建各样品间关系网络;以SPSS软件构建各样品间远近关系树状结构。结果单倍型分析发现,182例样品中共存在164种单倍型;Network软件分析显示,大部分样品间的网络距离呈均匀分布,但少部分样品距离较近;SPSS软件聚类分析发现,164个单倍型呈现出多个层级,大部分在短期内就发生了第一次聚集,再往根部又发生7次较大的汇集,最终全部汇集到两个分支上。结论即使在同姓男子中,Yfiler Plus试剂盒所包含的Y-STR基因座仍然有较高的基因差异度;以Y-STR检测结果进行Network分析及进化树分析,有助于揭示群体内个体间近代亲缘关系和遗传层级关系。该思路有望在法医学法医个体识别、亲权鉴定及族群迁徙等研究中发挥作用。     

STR基因座单倍型的推断方法初探

本文参考Browning SR等提出的以SNP等位基因频率为基础,通过统计学模型推断SNP单倍型的方法,初步探讨亲权鉴定中STR基因座单倍型的推断方法。以两个处于连锁不平衡状态的X-STR基因座的女性分型结果为例进行说明。本方法为STR单倍型的推断提供了一个思路,有助于更科学准确地进行STR分型结果的解释。     

Evaluation of population variation at 17 autosomal STR and 16 Y-STR haplotype loci in Croatians

Seventeen autosomal STR loci (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, VWA, TPOX, D18S51, D5S818, FGA, Penta E and Penta D) and 16 Y-STR haplotype loci (DYS19, DYS385, DYS389I, DYS398II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635 and GATA H4.1) were analyzed in the sample of 200 unrelated Croatians. The agreement with HWE was confirmed for all autosomal STR loci. The combined power of discrimination (PD) and the combined power of exclusion (PE) for the 17 autosomal STR loci were 0.999999999999999999682299331476 and 0.99999995, respectively. Penta E proved to be the most informative autosomal STR locus. Among 200 Croatian males, 197 Y-STR haplotypes were identified and haplotype diversity was estimated at 0.9998 ± 0.0005.     

Y-STR单倍型分析对男性家系数据库建设的探讨

目的通过对云南省镇雄县王姓家系Y-STR单倍型分析,确定其主流单倍型及亚单倍型,探索该地王姓家系Y染色体标志性基因型。寻找适于云南封闭山区的数据库建设方法。方法采集云南省镇雄县2镇19村男性血样8527份,应用阅微基因Microreader^TM 29Y Direct ID System试剂盒对样本进行复合扩增,分析该地占比最大姓氏王姓家系923份男性个体单倍型多样性。结果 923份王姓样本共观察到Y-STR单倍型451种,其中348种单倍型分别出现1次,103种单倍型出现2次及以上,各单倍型出现次数1～92次不等。将检测结果中相同人数大于3人的单倍型定为主流单倍型,获得该地王姓15个主流分型。结论该县区王姓家系存在主流单倍型,王姓与其他姓氏有双向基因交流。封闭山区数据库建设,应明确家系溯源,确定各姓氏主流分型,以有限样本量涵盖尽可能多的家系人员,提高建库效率。     

Y-STR的法医学分析及侦查学应用

人类Y染色体有其独特的遗传特点,男性子代的Y染色体必须来自于父亲,这在＂中国姓氏＂父系遗传的特点类似,所以Y染色体STR基因座又称为“姓氏基因”。将Y-STR检测技术与“姓氏”相结合,通过侦查等手段的紧密配合,在强化法医学分析和侦查学研判的基础上,可以帮助缩小侦查范围,实现主动侦查、主动破案。     

Searching for the origin of Romanies: Slovakian Romani, Jats of Haryana and Jat Sikhs Y-STR data in comparison with different Romani populations

Haplotype frequencies for 11 Y-STR markers (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385, DYS437, DYS438 and DYS439) in a Romani population (n=63) from Slovakia, Jats of Haryana (n=84) and Jat Sikhs (n=80) from India were determined. The Slovakian Romani, the Haryana and Sikh populations were endogamous based on their unique haplotype ratio and haplotype diversity values, although the Sikh population appeared to be more diverse. AMOVA revealed non-significant differences between the Romanies and significant differences with non-Romani populations. The Macedonian Romani population differed from all Romani populations examined. Frequent haplotypes observed in Romani populations were sporadic in northwest Indian populations. Thirteen out of 316 populations worldwide were found to share the six most frequent haplotypes of the Slovakian Romanies when the screening conditions were narrowed based on the population size to be over 40, the occurrence of the haplotypes was more than one and the sum frequencies of the most frequent haplotypes was at least 0.02. The most common haplotypes were also observed in other Romani groups. When searching with two Indian (Malbar and Malaysian Indian) most frequent haplotypes under the same conditions matches could be detected in all Romani populations except for the Macedonian Romanies. The search with the Jat Sikhs and Jats of Haryana most frequent haplotypes resulted no matches in Romani populations.     

Haplotype data for the 12 RM Y-STR loci in a Syrian population

Researches with RM Y-STRs have shown that these loci provide substantially higher haplotype diversity and haplotype discrimination capacity in worldwide populations when compared with the YSTRs commonly used in genetic forensics. The aim of this study was to develop an allelic frequency database for the Syrian population living in Turkey in order to obtain population data of 12 RM Y-STRs. A total of 80 unrelated males from the Syrian population living in Turkey were typed with 12 RM Y-STRs loci: DYF387S1, DYF399S1, DYF404S1, DYS449, DYS518, DYS526a/b, DYS547, DYS570, DYS576, DYS612, DYS626 and DYS627. The highest GD was observed for the locus DYF399S1 (0.91), followed by loci DYS449 (0.86) and DYS518 (0.83). RM Y-STR haplotype diversity was found 1.00 in these samples. Based on the results of this study, the RM YSTR loci showed remarkable haplotype resolution power in the Syrian population, high genetic diversity and, therefore, demonstrating their usefulness in forensic identification cases.     

Validation of a 17-locus Y-STR multiplex system

Internal validation of a commercial 17-locus Y-STR system (AmpFlSTR^® Yfiler™, Applied Biosystems) has been performed on the ABI PRISM^® 3130 Genetic Analyzer for use in forensic cases. The Yfiler™ kit was validated according to SWGDAM guidelines. Our results show that it is possible to obtain full profiles with as little as 30 pg of male DNA even in the presence of 20,000-fold amounts of female DNA. Reaction volume was optimized for 10 μl. Male-male mixtures yielded full profiles of the minor contributor with 10-fold excess of the major contributor. Stutter values for each locus were determined from data generated for the population study which included Y-STR profiles from 156 caucasian males from the Montreal and Lac St.-Jean areas of Québec, Canada. The study recorded 141 different haplotypes of which 131 were unique with a haplotype diversity of 0.9965. A number of non-probative forensic samples from rape kit epithelial fractions and fingernail scrapings were also successfully tested.     

Diversity of 17-locus Y-STR haplotypes in Upper (Southern) Egyptians

Seventeen Y-STR loci included in the AmpF?STR^® Yfiler™ PCR Amplification kit were typed in a population sample of 208 males from Upper (South) Egypt. Of 204 observed haplotypes, 200 were unique (96.6%) and 4 were found twice each. The 17 loci gave a discriminating power of 0.9998. DYS458 showed the highest diversity as a single-locus marker (h = 0.868) along with a high frequency of microvariants and new alleles (22% of the sample). Other loci revealed duplicated and null alleles. Comparative analysis with Y-STR datasets of relevant populations and submission of the haplotypes to the Y-STR Haplotype Reference Database (YHRD) were undertaken.     

云南白族群体Y-STR及Y-SNP关联性探讨

目的探讨Y-STR与Y-SNP单倍群间的关联性及其法医学应用价值。方法用Y-filer的17个Y-STR基因座及6个Y-SNPs（M122、M95、M9、M130、M119和M45）对云南白族146名无关男性个体样本进行检测。结果①17个Y-STR基因座构成的单倍型在146名男性个体中共检出114种单倍型,其中93种仅出现于一名个体中。②6个Y-SNPs在白族中的频率为4.1%～47.3%,其中O3-M122频率最高,占47.3%。③综合两类遗传标记结果,出现于2名或2名以上个体的21种Y-STR单倍型中,有5种其Y-SNP不同;分别只有一个Y-STR基因座分型不同的29对单倍型中,有8对其Y-SNP分别不同。Y-SNP单倍群间部分Y-STR基因座等位基因频率分布存在一定差异。结论 Y-STR单倍型相同或相近的个体间其Y-SNP分型可不相同,结合两者进行检测分析对于男性嫌疑人家系排查具有重要意义。