Population data for 17 short tandem repeat loci on Y chromosome in northern Croatia

Human Y-short tandem repeats (STRs) are tandem repeat arrays of two to seven base pair units on non-recombining region (NRY) of the human Y chromosome. Studies on Y-STR are interesting in both population genetics and forensics. The aim of this study was to investigate the population genetic properties of 17 STR loci on Y chromosome in the northern Croatia region. We carried out a statistical analysis of the data from previously performed genetic analysis collected during routine forensic work by the Forensic Science Centre “Ivan Vu?eti?”. A total of 220 unrelated healthy men from northern Croatia were selected for the purpose of this study. Genomic DNA was extracted using Chelex procedure from FTA^® cards. Y-chromosomal STRs were determined using the AmpFISTR Yfiler PCR amplification kit. The haplotype frequencies were determined by direct counting and analyzed using Arlequin 3.1 and analysis of molecular variance calculated with the Y chromosome haplotype reference database online analysis tool. A total of 210 haplotypes were identified, 200 of which were unique. Total haplotype diversity was 0.995. Locus diversity varied from 0.331 for DYS392 to 0.783 for DYS385 locus. Allele frequencies diversity was 0.662. Discrimination capacity was 95.7%. The use of European minimal haplotype set indicated the most resemblance of this population to the Croatian capital of Zagreb, with modest resemblance to Bosnia and Herzegovina, Serbia and Hungary. This article provides the first overview of the Y chromosome STR variability in northern Croatia, thus providing the referent point for any future forensic and genetic epidemiology efforts in this region.     

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.     

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.     

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.     

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。     

中国云南白族和新疆维族7个Y-STR基因座的遗传多态性

利用AB I3100遗传分析仪, 我们调查了7个Y-STR基因座构成的单体型在中国云南白族133例和新疆维族105例无关男性个体中的分布。7个Y-STR基因座包括DYS456、DYS464 a/b/c/d、DYS527 a/b、DYS531、DYS709、DYS448和DYS522。结果显示,云南白族和新疆维族2个民族男性群体中,分别观察到133、105种单体型, 均为仅观察到1次的单体型,单体型多样性(HD)均趋近于1, 比较这种单体型在两个群体中的分布差异,显示有统计学显著意义(秩和检验: P<0.001)。中国云南白族和新疆维族7个Y-STR基因座具有较高的多态性, 为法医学实践和群体遗传学的研究提供了有用的基础资料。     

4个Y-STR基因座银染复合扩增

建立一个复合扩增体系,同时扩增DYS391、GATA-A4、GATA-A10和GATA-H4 4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。采用该复合扩增系统调查广东汉族311名无关男性个体的单倍型频率,这4个基因座分别检出5、7、6和5个等位基因,其基因多样性分别为0.4623、0.6972、0.7173、0.6015。共检出98种单倍型,单倍型基因多样性为0.9755。该复合扩增体系在建立Y染色体STR数据库,研究群体遗传和进行法医学鉴定有重要意义。 Abstract:A multiplex PCR system has been developed to amplify 4 Y-chromosome specific short tandem repeats(STR),DYS391,GATA-A4,GATA-A10 and GATA-H4,simultaneously.PCR products were separated by polyacrylamide gels electrophoresis followed by silver stain.When 311 unrelated males from the Han population in Guangdong were detected by the multiplex system,DYS391,GATA-A4,GATA-A10 and GATA-H4 showed 5,7,6 and 5 alleles respectively.Total 98 haplotypes could be identified.Gene diversity value for the 4 STR was 0.4623,0.6972,0.7173 and 0.6015 respectively.The gene diversity value for the haplotypes of the 4 Y-STR reached 0.9755.The four Y-STR multiplex system will be very powerful for establishing Y-STR database,exploring human origin,paternity testing and personal identification.     

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。     

Haplotype diversity of 17 Y-str loci in an admixed population from the Brazilian Amazon

The allelic and haplotype frequencies of 17 Y-STR loci most commonly used in forensic testing were estimated in a sample of 138 unrelated healthy males from Macapá, in the northern Amazon region of Brazil. The average gene diversity was 0.6554 ± 0.3315. 134 haplotypes of the 17 loci were observed, 130 of them unique and four present in two individuals each. The haplotype diversity index was 0.9996 + 0.0009, with the most frequent haplogroups being R1b (52.2%), E1b1b (11.6%), J2 (10.1%) and Q (7.2%). Most haplogroups of this population belonged to European male lineages (89.2%), followed by Amerindian (7.2%) and African (3.6%) lineages.     

Gene-pool structure of Tuvinians inferred from Y-chromosome marker data

The gene-pool structure of Tuvinians was examined in terms of the composition and frequency of Y-chromosome haplogroups in five geographically distanct populations. In the Tuvinian gene pool, a total of 22 haplogroups were identified with six of these, which were the most frequent (C3c, C3*, N1b, N1c1, Q1a3, and R1a1a). It was demonstrated that eastern regions of Tuva were most different from the other regions in haplotype frequencies. The evaluation of genetic diversity based on the frequencies of biallelic haplogroups and YSTR haplotypes revealed very high diversity values for all samples. In general, the genetic diversity values identified in Tuvinians were the highest for the indigenous ethnic groups of Siberia. The evaluation of the genetic differentiation of the samples examined using the analysis of molecular variance (AMOVA) showed that the gene pool of Tuvinians was relatively poorly differentiated with respect to haplogroup frequencies. Phylogenetic analysis within haplogroup N1b revealed strong founder effect, i.e., reduced diversity and star-like phylogeny of the median network of haplotypes, which formed a separate subcluster exclusive to Tuvinians. It was demonstrated that, in Tuvinians, haplogroup N1c1 was the most heterogeneous in haplotype profile and consisted of three different haplotype clusters, demonstrating considerable differences of western population from the rest of the Tuva populations. Phylogenetic analysis of haplogroups revealed common components for Tuvinians, Khakasses, Altaians, and Mongols.     

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.     

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.     

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。     

山东汉、回族男性人群父系遗传结构研究

本研究基于75个Y-SNP位点和23个Y-STR基因座对山东汉、回族男性人群进行研究,旨在揭示两个人群的父系遗传结构,为法医学应用及群体遗传学等提供基础数据。研究基于微测序技术检测187份山东汉族和130份山东回族样本,获取75个Y-SNP位点分型;采用PowerPlex^®Y23试剂盒检测23个Y-STR基因座;采用直接计数法统计等位基因频率、单倍型频率及单倍群频率,根据公式D=n(1-∑pi²)/(n-1)计算基因多样性、单倍型多样性以及单倍群多样性;根据Median-joining方法,使用NETWORK 5.0和NETWORK Publisher构建并展示网络图。研究结果显示,单倍群O-M175、C-M130、N-M231、Q-M242为山东汉族男性人群主要的Y单倍群,单倍群O-M175、J-M304、R-M207、C-M130、N-M231为山东回族男性人群最主要的单倍群;23个Y-STR基因座在山东汉族男性样本中检出187种单倍型,单倍型多样性为1.0000,在山东回族中检出121种单倍型,单倍型多样性为0.9988;网络图显示同一Y单倍群的样本相对独立地聚集在一起,山东汉族与回族人群之间存在共享单倍群,同时也存在一些特异性单倍群,如单倍群J-M304、R-M207均以山东回族为主,单倍群Q-M242则以山东汉族为主。山东汉族和回族男性人群的主要单倍群均为单倍群O-M175;单倍群J-M304、R-M207在山东回族中的高频分布,单倍群Q-M242则在山东汉族中高频分布。研究表明山东回族人群中保留有一定比例的欧亚西部和中东特有的Y染色体类型。     

德州汉族人群37个Y⁃STR基因座遗传多态性分析

调查德州汉族人群598名男性无关个体37个Y-STR基因座的遗传多态性,分析其在法医学和群体遗传学方面的应用价值,用AGCU Y37荧光检测试剂盒对德州汉族群体的37个Y-STR基因座进行扩增,用3500xL基因分析仪对其进行检测。用MEGA 7.0软件,通过邻接法（neighbor-joining, NJ）构建德州汉族群体和其他15个参考群体的系统发生树,探索群体间的遗传关系。结果共检出593种单倍型,基因多样性（genetic diversity, GD）值为0.113 9（DYS645）～0.971 4（DYS385a/b）,单倍型多样性（haplotype diversity, HD）和识别能力（discriminative capacity, DC）分别为0.999 971 989和0.991 6。结果表明,这37个Y-STR基因座在德州汉族人群中有较高的多态性分布。群体遗传分析中,遗传距离、多维尺度分析( multi-dimensional scaling,MDS) 和系统发生树分析结果表明,德州汉族与其他地区的汉族群体遗传距离更近。不同群体的遗传特征与语系划分、历史形成、地理分布等方面具有一致性。研究结果可为德州汉族人群的法庭科学和群体遗传学研究提供基础数据支持。     

曲阜地区孔姓人群17个Y-STR基因座遗传多态性分析

应用AmpFLSTR~Y-filer~(TM)PCR Amplification Kit荧光标记复合扩增试剂盒(ABI公司),对曲阜地区11 18名孔姓男性个体血样DNA进行PCR,扩增,统计分析17个Y-STR基因座的遗传学参数。实验结果显示,17个基因座除DYS385a/b基因座检出51个单倍型外,其余基因座上分别检出4~11种等位基因,等位基因频率分布在0.0009~0.8265之间。由17个基因座组成的YH单倍型系统共检出206种单倍型。根据Y-STR单倍型推断了Y-SNP单倍群,发现曲阜孔姓有3种高频单倍群:C3、Q1a1和O3,前两者有着明显的单祖先扩散结构,最可能是孔子类型。本实验通过对曲阜地区孔姓人群群体17个Y染色体短串联重复序列基因座遗传多态性的调查,记录、保存孔姓人群遗传学数据。     

Genetic variation of the Y chromosome in Chibcha-speaking Amerindians of Costa Rica and Panama

Genetic variation of the Y chromosome in five Chibchan tribes (Bribri, Cabecar, Guaymi, Huetar, and Teribe) of Costa Rica and Panama was analyzed using six microsatellite loci (DYS19, DYS389A, DYS389B, DYS390, DYS391, and DYS393), the Y-chromosome-specific alphoid system (alphah), the Y-chromosome Alu polymorphism (YAP), and a specific pre-Columbian transition (C-->T) (M3 marker) in the DYS 199 locus that defines the Q-M3 haplogroup. Thirty-nine haplotypes were found, resulting in a haplotype diversity of 0.937. The Huetar were the most diverse tribe, probably because of their high levels of interethnic admixture. A candidate founder Y-chromosome haplotype was identified (15.1% of Chibchan chromosomes), with the following constitution: YAP-, DYS199*T, alphah-II, DYS19*13, DYS389A*17, DYS389B*10, DYS390*24, DYS391*10, and DYS393*13. This haplotype is the same as the one described previously as one of the most frequent founder paternal lineages in native American populations. Analysis of molecular variance indicated that the between-population variation was smaller than the within-population variation, and the comparison with mtDNA restriction data showed no evidence of differential structuring between maternally and paternally inherited genes in the Chibchan populations. The mismatch-distribution approach indicated estimated coalescence times of the Y chromosomes of the Q-M3 haplogroup of 3,113 and 13,243 years before present; for the mtDNA-restriction haplotypes the estimated coalescence time was between 7,452 and 9,834 years before present. These results are compatible with the suggested time for the origin of the Chibchan group based on archeological, linguistic, and genetic evidence.     

Gene pool of Buryats: Clinal variability and territorial subdivision based on data of Y-chromosome markers

The structure of the Buryat gene pool has been studied based on the composition and frequency of Y-chromosome haplogroups in eight geographically distant populations. Eleven haplogroups have been found in the Buryat gene pool, two of which are the most frequent (N1c1 and C3d). The greatest difference in haplogroup frequencies was fixed between western and eastern Buryat samples. The evaluation of genetic diversity based on haplogroup frequencies revealed that it has low values in most of the samples. The evaluation of the genetic differentiation of the examined samples using an analysis of molecular variance (AMOVA) shows that the Buryat gene pool is highly differentiated by haplotype frequencies. Phylogenetic analysis within haplogroups N1c1 and C3d revealed a strong founder effect, i.e., reduced diversity and starlike phylogeny of the median network of haplotypes that form specific subclusters. The results of a phylogenetic analysis of the haplogroups identified common genetic components for Buryats and Mongols.