7个Y-STR基因座荧光标记复合分型及在中国汉族群体中遗传多态性的研究

建立了FAM（蓝色荧光）标记的DYS456、DYS464a/b/c/d和DYS527a/b和JOE(绿色荧光)标记的DYS531、DYS709、DYS448和DYS522 7个Y染色体STR基因座(相当于11个位点)复合扩增分型体系。利用ABI3100遗传分析仪调查中国广东汉族151例和河南106例汉族无关男性个体的遗传多态性分布, 并探讨在法医学中的应用价值。结果显示, 此方法能作出正确分型的最低基因组DNA量为0.02 ng; 在女性成份为男性成份150倍的混合DNA样本(总DNA量为160 ng)中能正确检出全部7个Y-STR基因座的基因型。 广东和河南2个汉族男性群体中, 观察到的单体型分别有150、105种, 其中仅观察到1次的单体型分别有149、104种, 单体型多样性(HD)分别为0.999912、0.999820; 这组Y-STR单体型在两个群体中的分布差异有统计学显著意义(秩和检验: P<0.001)。此7个Y-STR基因座多态性分析适用于法医学实践和人类进化的研究。     

福建畲族群体17个Y-STR基因座单倍型及遗传关系

应用Y-filerTM试剂盒及基因分型技术,检测152份福建畲族无关男性个体17个Y-STR基因座的多态性分布,计算等位基因频率及单倍型多样性,并结合已公开发表的其他11个群体相应基因座的单倍型资料,分析福建畲族群体遗传距离和聚类关系。福建畲族DYS385a/b基因座检出50种单倍型,其余15个Y-STR基因座分别检出3-11个等位基因,基因多样性GD值在0.4037(DYS391)～0.9725(DYS385a/b);观察到DYS19和DYS390基因座双等位基因和DYS385a/b基因座三等位基因,以及DYS448等部分基因座出现的"off-ladder"等位基因现象。17个Y-STR基因座共同构成的单倍型144种,其中138种单倍型出现1次,5种出现2次,1种出现4次,累计GD值为0.9990。从遗传距离分析发现,福建畲族与浙江汉族之间的遗传距离最近(0.0042),与青海藏族(0.2378)之间的遗传距离相对较远。福建畲族最靠近由台湾群体、浙江汉族、南方汉族等典型南方汉族群体聚成的分支区域。结果表明该17个Y-STR基因座在福建畲族群体中具有丰富的遗传多态性,对建立Y染色体STR数据库,研究群体遗传学和进行法医学应用有重要意义。     

云南泸西汉族17个Y-STR基因座多态性及遗传关系分析

调查云南泸西县汉族群体17个Y-STR基因座的多态性分布, 探讨其群体遗传学及法医学应用价值。应用AmpF?STR?Yfiler荧光标记复合扩增系统扩增156名汉族无关男性个体的17个Y-STR基因座, 用ABI3100遗传分析仪进行基因检测, 计算等位基因及单倍型频率, 并结合已公开发表的国内外其他16个群体的遗传学资料, 分析各群体间的遗传距离。云南泸西汉族男性群体中, 共观察到154种单倍型, 其中152种为仅观察到1次的单倍型, 2种单倍型观察到2次, 单倍型多样性(HD)值为0.9998, 基因多样性(GD)值在0.3901(DYS437)—0.9632(DYS385a/b)。17个群体遗传距离分析提示, 国内人群云南泸西汉族与湖南汉族的遗传距离最小(0.005), 与闽南汉族的遗传距离最大(0.035); 在中国周边群体中,云南泸西汉族与新加坡华人的遗传距离最小(0.015), 与日本人和马来西亚印度人群的遗传距离最大(0.060)。结果表明, 17个Y-STR基因座在云南泸西汉族中具有较高的遗传多态性, 适用当地的法医学应用。与其他民族群体的遗传多样性比较, 对了解各群体的起源、迁徙及相互关系有重要意义。     

辽宁满族11个Y-STR基因座多态性及遗传关系的分析

调查了辽宁满族群体11个Y-STR基因座的多态性分布, 探讨其群体遗传学及法医学应用价值。应用Powerplex Y System荧光标记复合扩增系统检测203名满族无关男性个体的11个Y-STR基因座, 用ABI310遗传分析仪进行基因分型, 计算等位基因和单倍型频率, 并结合已公开发表的国内其他16个群体相应基因座的遗传学资料, 分析其遗传距离和聚类关系。满族个体中共检出189种单倍型, 单倍型频率多样性0.9991, 基因多样性GD值在0.4594(DYS391)～0.9258(DYS385a/b); 从遗传距离分析发现, 满族和东北汉族的遗传距离最小(0.0015), 与维吾尔族的遗传距离最大(0.1485)。结果表明, 11个Y-STR基因座在满族群体中具有较好的遗传多态性, 适用于当地区的法医学应用。与其他民族群体遗传多样性的研究, 对了解满族的起源、迁移以及相互关系有重要意义。     

广西4个少数民族17个Y-STR基因座的多态性分析

应用Yfiler复合扩增试剂盒及基因分型技术, 调查了广西瑶、彝、京、壮4个少数民族人群17个Y-STR基因座的多态性分布, 计算等位基因频率和单体型多样性, 并结合国内其他4个群体相应基因座的遗传学资料, 分析其遗传距离和聚类关系。瑶族100名无关男性个体中检出61种单体型, 单体型多样性为0.9784; 彝族105名无关男性个体中检出67种单体型, 单体型多样性为0.9866; 京族103名无关男性个体中检出79种单体型, 单体型多样性为0.9911; 壮族107名无关男性个体中检出91种单体型, 单体型多样性为0.9956。在4个少数民族中, 京族和壮族的遗传距离最小(0.0391), 彝族和瑶族的遗传距离最大(0.3376)。结果表明, 该17个Y-STR基因座在广西4个少数民族人群中均具有较高的多态性, 在法医学、群体遗传学等方面有重要的应用价值。     

DYS458、DYS534、DYS426和DYS626基因座多态性研究

目的：研究河南汉族群体DYS458、DYS534、DYS426和DYS626四个Y-STR基因座遗传多态性,评估其法医学应用价值。方法：采用PCR扩增和非变性聚丙烯酰胺凝胶电泳及DNA测序分析河南汉族113名无血缘关系、健康男性个体的4个Y-STR基因座基因及单倍型频率分布。结果：4个基因座共发现了24个等位基因,频率分布在0.0177～0.9027,基因多样性（gene diversity,GD）值最低为0.1801（DYS426）,最高为0.8368（DYS626）。113个个体共检测到94个单倍型,其79种为惟一的,单倍型多样性为0.99589。结论：4个Y-STR基因座在河南汉族群体均具有较高的遗传多态性,可应用于法医学个体识别和亲子鉴定。     

贵州三都水族Y染色体上7个STR基因座的遗传多态性分析

采用多重PCR技术, 结合ABI PRISMTM 377 DNA Sequencer四色荧光标记进行基因扫描分型, 对中国贵州三都水族群体进行7个Y-STR基因座的多态性分析, 计算其基因频率、遗传多样性及单倍型多样性, 获取相应的遗传多态信息.结果显示: 在94个无关男性样本中, DYS19、DYS389Ⅰ、DYS389Ⅱ、DYS390、DYS391、DYS392、DYS393等基因座分别检出6, 4, 6, 2, 3, 5, 4种等位基因, 遗传多样性在0.124(DYS389Ⅰ)～0.630(DYS19)之间; 由此组成的单倍型为27种, 单倍型多样性0.868.此7个Y-STR基因座在贵州三都水族群体中具有较好的多态性, 单倍型具有较高的遗传多态.     

贵州三都水族Y染色体上七个STR基因座的遗传多态性分析

采用多重PCR技术, 结合ABI PRISMTM 377 DNA Sequencer四色荧光标记进行基因扫描分型, 对中国贵州三都水族群体进行7个Y-STR基因座的多态性分析, 计算其基因频率、遗传多样性及单倍型多样性, 获取相应的遗传多态信息。结果显示: 在94个无关男性样本中, DYS19、DYS389Ⅰ、DYS389Ⅱ、DYS390、DYS391、DYS392、DYS393等基因座分别检出6, 4, 6, 2, 3, 5, 4种等位基因, 遗传多样性在0.124(DYS389Ⅰ)~0.630(DYS19)之间; 由此组成的单倍型为27种, 单倍型多样性0.868。此7个Y-STR基因座在贵州三都水族群体中具有较好的多态性, 单倍型具有较高的遗传多态。     

59个Y-STR基因座的法医学多态性应用效能评估

为了评估法医学DNA数据库建设中涉及的59个Y-STR基因座的遗传多态性和法医学应用效能,通过AGCU Y SUPP PLUS试剂盒和AGCU Y37试剂盒检测374个广东汉族无关男性个体,将检测出的59个Y-STR基因座按照突变率的高低进行分类组合和统计分析。结果显示,59个Y-STR基因座联合运用在374个无关男性个体中检出了374个单倍型,其中44个中低突变Y-STR组合、15个高快突变Y-STR组合分别检出373和372个单倍型。59个Y-STR的基因多态性数值分布在0.055 1 (DYS645)~0.958 0 (DYF387S1 a/b)之间。结果表明,这59个Y-STR在广东汉族群体中均具有良好的多态性,按中低突变Y-STR组合和高快突变Y-STR组合研发新的检测体系可更好地满足法医实践的不同需求。     

山西汉族17个Y-STR基因座遗传多态性及遗传关系

为了调查山西汉族群体17个Y-STR基因座的多态性分布,探讨其群体遗传学及法医学应用价值,文章应用Y-filer TM试剂盒检测222名山西汉族无关男性个体的17个Y-STR基因座,用ABI3130遗传分析仪进行基因分型,计算等位基因频率及单倍型多样性,并结合已公开发表的国内其他13个群体相关数据资料,分析山西汉族群体遗传距离和聚类关系。结果:山西汉族个体中共检出219种单倍型,单倍型多样性为0.9999;基因多样性GD值在0.3894(DYS391)~0.9755(DYS385a/b)。从遗传距离分析发现,山西汉族与吉黑汉族之间的遗传距离最近(?0.0001),与台湾群体(0.0152)之间的遗传距离相对较远。结果表明该17个Y-STR基因座在山西汉族群体中具有丰富的遗传多态性,对建立Y染色体STR数据库、研究群体遗传学和进行法医学应用有重要意义。     

中国南方汉族人群6个Y-STR基因座 遗传多态性及法医学应用

为研究中国南方汉族人群DYS393等6个Y-STR基因座的遗传多态性并用于法医学鉴定,通过采用PCR复合扩增和基因测序仪荧光检测方法,检查204个无关男性个体,调查南方汉族的6个Y-STR基因座的单倍型频率,并对93对真父子和38对非父子的亲子鉴定样本进行检测。结果DYS393基因座检出5个等位基因,DYS19基因座检出6个等位基因,DYS389Ⅱ基因座检出8个等位基因,DYS390基因座检出6个等位基因,DYS391基因座检出4个等位基因,DYS385 基因座检出44个等位基因,共检出176种单倍型。93对真父子中,观察到2例分别有1个基因座突变。检测38对非父子,有1个或2个Y-STR基因座排除的案例各有1例（2.6%）;有3 个和3个以上的Y-STR基因座可以排除父子关系的案例为35例（92.1%）;6个Y-STR基因座不能排除父子关系的为1例。结果表明6个Y-STR基因座具有丰富的遗传多态性,可用于法医学个体识别和亲子鉴定。Abstract: To study the genetic polymorphisms of six Y-chromosome specific STR loci in the southern Chinese Han population and apply it in forensic science, six Y-STR loci were amplified by multiple PCR and the PCR products were detected by using ABI PrismTM 377 Sequencer. The haplotype frequencies at 6 Y-STR loci were determined in a total of 204 unrelated males from southern Han population of China. Ninety-three father/son pairs with demonstrated paternity and thirty-eight non-paternity father/son pairs were detected by using our Y-STR system. As a result, the number of alleles for DYS393、DYS19、DYS389Ⅱ、DYS390、DYS391and DYS385 were 5, 6, 8, 6, 4 and 44 , respectively. A total of 176 haplotypes at 6 Y-STR loci were found. Two father/son pairs with single Y-STR mutation were observed in the 93 father/son pairs with demonstrated paternity. Among the 38 non-paternity father/son pairs, one case with one Y-STR exclusion of paternity, one case with two Y-STR exclusions and 35 cases with 3 or more Y-STR exclusions were observed. Non-exclusion of paternity at 6 Y-STR loci was found only in one case. This result indicated that the six Y-STR loci were highly polymorphic and are suitable for personal identification and paternity testing.     

The Y-STR genetic diversity of an Idaho Basque population, with comparison to European Basques and US Caucasians

Fifty unrelated Basque males from southwest Idaho were typed for the 17 Y-STR loci in the Yfiler multiplex kit (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, YGATA H4.1 and DYS385a/b). In total, 42 haplotypes were identified, with no more than two individuals sharing a single haplotype. The haplotype diversity (HD) was 0.9935, and gene diversity (D) over loci was 0.457 ± 0.137. The Idaho Basque population was compared to the source population from the Basque autonomous region of Northern Spain and Southern France, as well as a United States Caucasian population. The haplotype diversity for the immigrant Basque sample is within 0.4% of the haplotype diversity of the European Basques (0.9903); thus the power of discrimination is similar for each population. The Idaho Basque population has less diversity in 9 out of 16 loci (considering DYS385a/b together) and 3% less diversity across all loci, compared to the European Basque population. A multidimensional scaling analysis (MDS) was created using pairwise R(ST) values to compare the Idaho Basques to other populations. Based upon R(ST) and F(ST) measures, no significant differentiation was found between the Idaho and source European Basque population.     

陕西渭南地区汉族人群17个Y-STR基因座多态性及遗传关系分析

调查陕西渭南地区汉族群体17个Y-STR基因座的多态性,探讨其群体遗传学及法医学应用价值。应用Y-fi ler荧光标记复合扩增系统,对413名陕西渭南地区汉族无关男性个体17个Y-STR基因座进行复合扩增,用ABI3130遗传分析仪进行基因分型,计算各基因座的群体遗传学参数,并结合已经发表的其他10个群体相应基因座的单倍型资料,分析各群体间的遗传距离。413名陕西渭南汉族个体共检出405种单倍型,其中397种单倍型仅出现1次,单倍型多样性达0.9999,基因多样性(GD)为0.4130(DYS391)~0.9734(DYS385a/b),累计GD值为0.9999。遗传距离分析提示,陕西渭南汉族与辽宁满族的遗传距离最小(0.00110),与青海藏族的遗传距离最大(0.22333)。结果表明,17个Y-STR基因座在陕西渭南汉族群体中具有丰富的遗传多态性和较高的非父排除能力,在法医学和人类群体遗传学研究中具有重要价值。     

A preliminary study on the origin of Koreans based on Y-STR variation

To investigate the origin of Koreans, we examined the 12-locus Y-chromosome short tandem repeat (Y-STR) variation in a sample of 310 unrelated males from three localities (Gochang, Andong and Geoje) in Korea and statistically analyzed the previously published four Y-STR databases (n = 1655) of Korean population. The median joining network of 9-locus Y-STR haplotypes inferred as haplogroup O2b-SRY₊₄₆₅ showed a “star cluster” indicative of a population expansion from a centrally positioned haplotype. The central haplotype in the “star cluster” was the most frequently occurring Y-STR haplotype among the Korean male gene pool (6%, 127 of 1965, 10,14,12,13,14,16,13,13,23, for loci DYS391, DYS389I, DYS439, DYS438, DYS437, DYS19, DYS392, DYS393, and DYS390), which was shared among all seven datasets. Based on the “star cluster” pattern from both our data (41%, 128 of 310) and those previously published (34%, 563 of 1655), we suggest that the most frequent Y-STR haplotype among the Korean male gene pool seems to be the Korean modal (ancestral) haplotype. Further study with additional Y-STR and Y-SNP data of the east Asian populations as well as Korean population are needed to providing a genetic clue for the “star cluster” (O2b-SRY₊₄₆₅) associated with the ethnohistoric events of the Koreans.     

Analysis of polymorphism of three human Y-chromosome STR loci: DYS390, DYS392 and DYS393 in the population of northern Poland

The study aimed at development of a multiplex PCR system for amplification of three Y-chromosome STR loci: DYS390, DYS392 and DYS393, and its application in haplotype polymorphism analysis in the population of northern Poland. Due to interactions between originally published primers, a new DYS392 primer pair was proposed. In a population of 158 unrelated males, 28 different haplotypes could be observed, 12 of which were seen only once. The haplotype diversity is 0.805. Distribution of haplotypes of the studied loci is specific to the population of northern Poland and distinguishes it from compared West-European populations. To our knowledge, this is the first report on a Y-STR multiplex system that can be analysed on native polyacrylamide gels.     

广东汉族22个Y-STR基因座遗传多态性及遗传关系分析

调查了广东汉族群体22个 Y-STR基因座的遗传多态性分布情况, 探讨其群体遗传学及法医学应用价值。通过自行建立的两组Y-STR荧光标记复合扩增体系(MultiplexⅠ: DYS505, DYS533, DYS576, DYS588, DYS634, DYS643; MultiplexⅡ: DYS461, DYS481, DYS504, DYS508, DYS607)和应用进口Powerplex Y System (DYS19, DYS389Ⅰ/Ⅱ, DYS390, DYS391, DYS392, DYS393, DYS385, DYS437, DYS438, DYS439), 对广东汉族216 名无关男性个体进行22 个STR基因座的复合分型, 用ABI310基因分析仪对扩增产物进行检测, 统计22 个Y-STR基因座的群体遗传学参数, 并结合已公开发表的其他12 个群体“扩展单倍型”的数据资料, 分析广东汉族群体遗传距离和聚类关系。3 组复合扩增系统均可成功进行分型, 基因多样性GD值在0.3299(DYS634)~ 0.9425(DYS385); 22 个Y-STR基因座共同构成的单倍型214 种, 单倍型多样性为0.9999。广东汉族和潮汕汉族的遗传距离最近(-0.0030), 与东北汉族的遗传距离最远(0.0195)。22 个Y-STR基因座联合检测具有丰富的遗传多态性, 对建立Y染色体STR数据库, 研究群体遗传学和进行法医学应用有重要意义。     

Genetic diversity of Y-chromosome microsatellites in the Fujian Han and the Sichuan Han populations of China

Y-chromosome short tandem repeats (STRs) are potentially useful for forensic, anthropological and evolutionary studies. In this study we chose the loci DYS 19, DYS 388, DYS 389 I, DYS 389 II, DYS 390, DYS 391, DYS 392, DYS 393, DYS 425 and DYS 426. Blood samples were taken from 46 unrelated male individuals from Fujian Han and 43 unrelated males from Sichuan Han in China. DNA was extracted by conventional chelex extraction procedure. PCR was carried out in two multiplex reactions. Fragment analysis was conducted on an ABI PRISM 310 Genetic Analyzer. Allele frequency distributions and discrimination indices were calculated, and the two populations were tested for genetic differences by means of analysis of molecular variance (AMOVA). Here we obtained 75 Y-STR haplotypes and the haplotype diversity for the complete haplotype was 0.9884 in Fujian Han and 0.9967 in Sichuan Han. A larger genetic difference became apparent between the two populations that belong to the Sino-Tibetan speaking populations.