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。     

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。     

Y-chromosome-specific microsatellite variation in Australian aboriginals

The frequency distributions of 4 highly polymorphic Y-chromosome-specific microsatellites (DYS19, DYS390, DYS391, and DYS392) were determined in 79 unrelated Australian Aboriginal males from the Northern Territory. These results are compared with those observed in worldwide populations at both the locus and the haplotype level. Common alleles in Aboriginals are DYS19*15 (49%), DYS19*14 (28%), DYS390*19 (39%), DYS390*24 (20%), DYS391*10 (72%), DYS392*11 (63%), and DYS392*13 (28%). No evidence of reduced gene diversity was observed for these Y-chromosome alleles. DYS390 exhibits the most complex arrangement, displaying a bimodal distribution composed of common alleles (*22-*26), and rare short alleles (*18-*20), with an intermediate allele (*21) being absent. DYS390*20, previously reported only in Papuans and Samoans, is observed for the first time in Aboriginals. Compared with a recent study of Aboriginals, our sample exhibits considerable diversity in the haplotypes associated with the rare DYS390*19 allele, indicating that this allele is of considerable antiquity, if it arose as a single deletion event. Combining all 4 Y-chromosome-linked microsatellites produced 41 unique haplotypes, which were linked using a median-joining network. This network shows that most (78%) of our Aboriginal haplotypes fall into 2 distinct clusters, which likely represent 2 separate lineages. Seven haplotypes are shared with haplotypes found in a recent study of Aboriginals, and 7 are shared with a Spanish population. The cluster of Aboriginal haplotypes associated with the short DYS390 alleles does not share any haplotypes with the Spanish, indicating that this cluster of haplotypes is unique to Australian Aboriginals. Limited data from 4 worldwide populations used to construct haplotypes based on 3 loci (DYS19, DYS390, DYS392) show that only 4 of these haplotypes are seen in Australian Aboriginals. Shared haplotypes may be the result of admixture and/or recurrent mutation at these loci. Expanding the haplotype analysis to include biallelic markers on the Y chromosome will resolve this issue.     

Polymorphism of Y-chromosomal microsatellites in Russian population from Southern Federal district of the Russian Federation

Haplotype frequencies and allele distributions at 11 STR loci of the Y chromosome were evaluated in 180 unrelated individuals from Russian population of Southern Federal district of the Russian Federation (Rostov oblast, Krasnodar krai, and Stavropol krai). Among 153 Y-chromosomal haplotypes discovered, 62 were unique. In the sample of Russian population, the most frequent haplotype (frequency of 5.56%) was 16-11,14-13-30-25-11-11-13-14-11-10 (for the loci DYS19, DYS385a,b, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, and DYS439, respectively). Despite the high diversity of Y-chromosomal haplotypes in the Russian populations from the south of Russia (the h value was 0.997, 0.995, and 0.994 in Rostov, Krasnodar, and Stavropol samples, respectively), analysis of molecular variance (AMOVA) showed the absence of differentiation between the populations (Φ_ST = 0.1%, P = 0.36). Comparative differentiation analysis performed for 13 Russian populations from the European part of Russia pointed to low among-population differentiation in Y-chromosomal lineages (Φ_ST = 0.52%, P = 0.03).     

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。     

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.     

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.     

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。     

Male ancestry structure and interethnic admixture in African-descent communities from the Amazon as revealed by Y-chromosome Strs

Some genetic markers on both the Y chromosome and mtDNA are highly polymorphic and population‐specific in humans, representing useful tools for reconstructing the past history of populations with poor historical records. Such lack of information is usually true in the case of recent African‐descent populations of the New World founded by fugitive slaves throughout the slavery period in the Americas, particularly in Brazil, where those communities are known as quilombos. Aiming to recover male‐derived ethnic structure of nine quilombos from the Brazilian Amazon, a total of 300 individuals, belonging to Mazagão Velho (N = 24), Curiaú (N = 48), Mazagão (N = 36), Trombetas (N = 20), Itacoã (N = 22), Saracura (N = 46), Marajó (N = 58), Pitimandeua (N = 26), and Pontal (N = 20), were investigated for nine Y‐STRs (DYS393, DYS19, DYS390, DYS389 I, DYS389 II, DYS392, DYS391, DYS385 I/II). From the 169 distinct haplotypes obtained, 120 were singletons. The results suggest the West African coast as the main origin of slaves brought to Brazil (54% of male contribution); the European contribution was high (41%), while the Amerindian's was low (5%). Those results contrast with previous mtDNA data that showed high Amerindian female contribution (46.6%) in African‐descent populations. AMOVA suggests that the genetic differentiation among the quilombos is mainly influenced by admixture with European. However, when restricting AMOVA to African‐specific haplotypes, low differentiation was detected, suggesting great genetic homogeneity of the African founding populations and/or a later homogenization by intense slave trade inside Brazil. Am J Phys Anthropol, 2011. © 2010 Wiley‐Liss, Inc.     

Polymorphism of Y-chromosomal microsatellites in Russian populations from the northern and southern Russia as exemplified by the populations of Kursk and Arkhangel'sk Oblast

Allelic polymorphisms at five Y-chromosomal microsatellite loci (DYS19, DYS390, DYS391, DYS392, and DYS393) were typed in 87 individuals from male population samples from two geographically isolated regions (Arkhangelsk oblast and Kursk oblast) of the European part of Russia. The populations examined demonstrated substantial differences in the distribution of the DYS392 (P = 0.005) and DYS393 (P = 0.003) alleles. Estimates of genetic relationships between these populations and some other European populations (including Eastern-Slavic) showed that irrespectively of the measure of genetic distance chosen, Arkhangelsk population was closer to the populations belonging to the Finno-Ugric linguistic group (Saami and Estonians) and to the Estonian geographical neighbors, Latvians, while Kursk population was the member of a cluster formed by Eastern-Slavic populations (Russians of Novgorod oblast, Ukrainians, and Belarussians). Phylogenetic analysis of the most frequent haplotypes indicated that these differences between Kursk and Arkhangelsk populations were associated with high prevalence in the latter of major haplotypes characteristic primarily of the Finno-Ugric populations.     

Genetic structure of Mediterranean populations revealed by Y-chromosome haplotype analysis

The allelic variability at six Y-chromosome-specific polymorphisms (YAP, DYS19, DYS389-I, DYS390, DYS391, and DYS392) was used to generate male-specific haplotypes in 333 males representing 12 population samples from the region around the Mediterranean sea. Extreme interindividual variation was observed, as more than 160 distinct Y-chromosome variants could be defined as six-locus haplotypes. Concomitant with this high variability, low levels of population genetic structure were observed. In particular, a "core" of populations directly facing the north and the east of the Mediterranean basin, from the Middle East to the Italian Peninsula, was found to be genetically undifferentiated. This observation, supported by a reanalysis of Y-specific binary polymorphisms in the same populations, suggests that at least part of the male-specific gene pools of these populations has either a very recent common origin (that could be related with the Neolithic demic diffusion hypothesis), and/or that gene flow has played a significant role in shaping the patterns of genetic variability in this region. In agreement with both hypotheses, we found that the spatial distribution of DYS392 alleles revealed a marked differentiation between the East and the West of the Mediterranean area. Through the analysis of microsatellite variation, the time to the most recent common ancestor (TMRCA) of the YAP(+) sublineage 4 has been estimated. The estimations, based on two different data sets, turn out to be quite recent (7,000-11,000 YBP), suggesting that this lineage may have been first introduced into Southern Europe through Neolithic migrations from the Middle East.     

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。     

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.     

Croatian national reference Y-STR haplotype database

A reference Y-chromosome short tandem repeat (STR) haplotype database is needed for Y-STR match interpretation as well as for national and regional characterization of populations. The aim of this study was to create a comprehensive Y-STR haplotype database of the Croatian contemporary population and to analyze substructure between the five Croatian regions. We carried out a statistical analysis of the data from previously performed genetic analyses collected during routine forensic work by the Forensic Science Centre "Ivan Vu?eti?". A total of 1,100 unrelated men from eastern, western, northern, southern and central Croatia were selected for the purpose of this study. Y-STRs were typed using the AmpFISTR Yfiler PCR amplification kit. Analysis of molecular variance calculated with the Y chromosome haplotype reference database online analysis tool included 16 population samples with 20,247 haplotypes. A total of 947 haplotypes were recorded, 848 of which were unique (89.5%). Haplotype diversity was 0.998, with the most frequent haplotype found in 9 of 1,100 men (0.82%). Locus diversity varied from 0.266 for DYS392 to 0.868 for DYS385. Discrimination capacity was 86.1%. Our results suggested high level of similarity among regional subpopulations within Croatia, except for mildly different southern Croatia. Relative resemblance was found with Bosnia and Herzegovina and Serbia. Whit Atheys' Haplogroup Predictor was used to estimate the frequencies of Y-chromosome haplogroups. I2a, R1a, E1b1b and R1b haplogroups were most frequent in all Croatian regions. These results are important in forensics and contribute to the population genetics and genetic background of the contemporary Croatian population.     

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。     

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。     

Biodemographic and molecular analysis of an isolated Alpine population (Postua)

Isolated populations have been the object of several genetic and anthropological studies, since endogamy and inbreeding often lead to the acquisition of a particular gene pool. In this context, we studied the small, ancient population of Postua in the north-western Italian Alps. We used biodemographic and molecular techniques to analyse the population structure in order to evaluate the relationship between geographical and genetic isolation. We examined about 26,000 certificates kept in the town and parish archives, concerning the period from 1640 to 1999. High rates of endogamy and isonymy, short marriage distances and a low ratio between the number of surnames and the number of individuals were inferred. In the molecular analysis, we compared the distribution of Y chromosome SNPs (single nucleotide polymorphisms) with those of mitochondrial variations and Y chromosomal microsatellites (short tandem repeat polymorphisms) in 102 healthy individuals originating from Postua. A control sample (94 individuals) was collected from a plain area, 50 km away. We examined 23 SNPs and an Alu repeat, located in the nonrecombinant portion of the Y chromosome. To further delineate Y chromosome lineages, the biallelic haplogroups were further resolved using Y microsatellite markers (DYS19, DYS391, DYS392, DYS393). Mitochondrial HVS-I and HVS-II regions were sequenced, and RFLP screening with the six classical enzymes was performed. Postua is similar to other populations living in northern Italy, but it shows a lower number of haplotypes. The samples were compared with other European populations. We calculated genetic distances according to Reynold and Nei and we carried out a phylogenetic analysis by phylogenetic trees and reduced median networks construction. Postua clusters with other samples from northern Italy but in a separate position, probably indicating drift phenomena. These relationships are supported by AMOVA (analysis of molecular variance). Our results suggest that the influence of neighbouring populations on the gene pool of Postua has been very low through both females and males.     

Polymorphism of Y-Chromosomal Microsatellites in Russian Populations from the Northern and Southern Russia as Exemplified by the Populations of Kursk and Arkhangelsk Oblast

Allelic polymorphisms at five Y-chromosomal microsatellite loci (DYS19, DYS390, DYS391, DYS392, and DYS393) were typed in 87 individuals from male population samples from two geographically isolated regions (Arkhangelsk oblast and Kursk oblast) of the European part of Russia. The populations examined demonstrated substantial differences in the distribution of the DYS392 (P = 0.005) and DYS393 (P = 0.003) alleles. Estimates of genetic relationships between these populations and some other European populations (including Eastern-Slavic) showed that irrespectively of the measure of genetic distance chosen, Arkhangelsk population was closer to the populations belonging to the Finno-Ugric linguistic group (Saami and Estonians) and to the Estonian geographical neighbors, Latvians, while Kursk population was the member of a cluster formed by Eastern-Slavic populations (Russians of Novgorod oblast, Ukrainians, and Belarussians). Phylogenetic analysis of the most frequent haplotypes indicated that these differences between Kursk and Arkhangelsk populations were associated with high prevalence in the latter of major haplotypes characteristic primarily of the Finno-Ugric populations.__________Translated from Genetika, Vol. 41, No. 8, 2005, pp. 1125–1131.Original Russian Text Copyright © 2005 by Khrunin, Bebyakova, Ivanov, Solodilova, Limborska.     

Genetic diversity in an Andean population from Peru and regional migration patterns of Amerindians in South America: data from Y chromosome and mitochondrial DNA

The genetic variability of a Quechua-speaking Andean population from Peru was examined on the basis of four Y chromosome markers and restriction sites that define the Amerindian mitochondrial DNA (mtDNA) haplogroups. Forty-nine out of 52 (90.4%) individuals had mtDNA which belonged to one of the four common Amerindian haplogroups, with 54% of the samples belonging to haplogroup B. Among 25 males, 12 had an Amerindian Y chromosome, which exists as four haplotypes defined on the basis of the DYS287, DYS199, DYS392 and DYS19 markers, three of which are shared by Amazonian Amerindians. Thus, there is a clear directionality of marriages, with an estimated genetic admixture with non-Amerindians that is 9 times lower for mtDNA than for Y chromosome DNA. The comparison of mtDNA of Andean Amerindians with that of people from other regions of South America in a total of 1,086 individuals demonstrates a geographical pattern, with a decreasing frequency of A and C haplotypes and increasing frequency of the D haplotype from the north of the Amazon River to the south of the Amazon River, reaching the lowest and the highest frequencies, respectively, in the more southern populations of Chile and Argentina. Conversely, the highest and lowest frequencies of the haplogroup B are found, respectively, in the Andean and the North Amazon regions, and it is absent from some southern populations, suggesting that haplotypes A, C and D, and haplotype B may have been dispersed by two different migratory routes within the continent.     

Three major lineages of Asian Y chromosomes: implications for the peopling of east and southeast Asia

DNA variation on the non-recombining portion of the Y chromosome was examined in 610 male samples from 14 global populations in north, east, and southeast Asia, and other regions of the world. Eight haplotypes were observed by analyses of seven biallelic polymorphic markers ( DYS257(108), DYS287, SRY(4064), SRY(10831), RPS4Y(711), M9, and M15) and were unevenly distributed among the populations. Maximum parsimony tree for the eight haplotypes showed that these haplotypes could be classified into four distinct lineages characterized by three key mutations: an insertion of the Y Alu polymorphic (YAP) element at DYS287, a C-to-G transversion at M9, and a C-to-T transition at RPS4Y(711). Of the four lineages, three major lineages (defined by the allele of YAP(+), M9-G, and RPS4Y-T, respectively) accounted for 98.6% of the Asian populations studied, indicating that these three paternal lineages have contributed to the formation of modern Asian populations. Moreover, phylogenetic analysis revealed three monophyletic Asian clusters, which consisted of north Asian, Japanese, and Han Chinese/southeast Asian populations, respectively. Coalescence analysis in the haplotype tree showed that the estimated ages for three key mutations ranged from 53,000 to 95,000 years, suggesting that the three lineages were separated from one another during early stages of human evolutionary history. The distribution patterns of the Y-haplotypes and mutational ages for the key markers suggest that three major groups with different paternal ancestries separately migrated to prehistoric east and southeast Asia.