Haplotypes for 13 Y-chromosomal STR loci in South Tunisian population (Sfax region)

Nine Y-STR loci from the "minimal haplotype" (DYS19, DYS385a/b, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393) included in Y-STR Haplotype Reference Databases (YHRD) with 4 additional Y-STRs (DYS436, DYS437, DYS438, DYS439) were analyzed by PCR using duplex and Y-PLEX 12 kit, followed by automatic genotyping in a sample of 105 Tunisian males originating from Sfax region (south Tunisia). Allelic frequencies and gene diversities for each Y-STR locus were determined. The high haplotype diversity (0.9932) and discrimination capacity (0.7714) show the usefulness of these loci for human identification in forensic studies and paternity tests in Tunisia. The most common haplotype was shared by 4.7% (5 individuals) of the sample was only found in samples from the Tunisian population reported in YHRD. One private allele for DYS392 (allele 17) was discovered and duplications were observed for five loci (DYS19, DYS389I, DYS393, DYS437 and DYS439).     

Allele frequencies and haplotypes of 12 Y-STR loci for the local Chinese population in Hong Kong

Haplotype frequencies were established for 12 Y-chromosome STR loci, including all loci recommended by Scientific Working Group on DNA Analysis Methods Y-STR Subcommittee (DYS391, DYS389I/II, DYS439, DYS393, DYS390, DYS385a/b, DYS438, DYS19 and DYS392) plus DYS437, in the local Chinese population in Hong Kong. In a sample of 481 unrelated males, it was possible to define 424 different haplotypes of which 388 were unique, 26 was found in two individuals, 2 were shared in three individuals, 5 were shared in four individuals and 3 were shared in five individuals. The allele diversity values for each locus ranged from 0.4273 (DYS438) to 0.9555 (DYS385a/b). The observed haplotype diversity value and discrimination capacity were 0.9992 and 0.8815, respectively. In a genetic study of these unrelated males, triple alleles were found at the DYS358 locus in six individuals. The combined Y-chromosome STR polymorphisms provide a powerful discrimination tool for routine forensic applications.     

Human Y-specific STR haplotypes in the Western Croatian population sample

Nine Y-chromosome STR loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385 and YCAII) were analysed in a sample of 101 unrelated males from Croatia. Allelic frequencies and gene diversities for each Y-STR locus and haplotype diversity were determined. Ninety-one different haplotypes were obtained from 101 unrelated males and 84 haplotypes were unique. Three most common haplotypes were shared by 3% of the sample, one of them was not found in the online Y-STR Haplotype Reference Database (http://www.ystr.org/).     

Population genetics for Y-chromosomal STRs haplotypes of Chinese Korean ethnic group in northeastern China

Y-chromosomal STRs loci were analyzed from a sample of 201 healthy unrelated male individuals of Chinese Korean ethnic group. Allele and haplotype frequencies for DYS19, DYS385a/b, DYS388, DYS389 I, DYS389 II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438 and DYS439 were determined by the general PCR and silver staining methods. The gene diversity values for the Y-STRs loci ranged from 0.4146 (DYS437) to 0.9631 (DYS385a/b). A total of 194 haplotypes were identified in the Y-STR loci, among which 188 were unique, while 6 occurred more than once. And the combined haploytpes diversity was 0.9996. The results in the present study can be used for routine forensic application in the region, and enrich Chinese ethnical genetic informational resources.     

Population data for Y-chromosome haplotypes defined by 17 STRs (AmpFlSTR YFiler) in Central Portugal

The 17 Y-chromosome STR loci (DYS19, DYS389I, DYS389II, DYS390, DYS456, DYS391, DYS392, DYS393 and DYS385 a/b, DYS458, DYS439, DYS635, GATA H4.1, DYS437, DYS438 and DYS448) were determined for 100 unrelated males, living in Central Portugal, using the AmpFlSTR YFiler PCR Amplification kit (Applied Biosystems).A total of 99 different haplotypes were found, with only two individuals sharing the same haplotype. The overall haplotype diversity (HD) was determined as 0.9998, a value similar to other Y Filer data sets.Y-STR polymorphisms in Central Portugal population, using YFiler, provide a powerful discrimination tool for routine forensic applications.     

Forensic evaluation and haplotypes of 19 Y-chromosomal STR loci in Koreans

In this study, 19 Y-specific STR loci (DYS19, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS385, DYS388, DYS434, DYS435, DYS436, DYS437, DYS438, DYS439, DYS446, DYS449, and DYS464) were analyzed in 301 unrelated Korean males by three multiplex PCR systems. The haplotype diversity using the classical set of Y-STRs (DYS19, DYS389I/II, DYS390, DYS391, DYS392, DYS393, and DYS385; multiplex I) was 0.9963. For the same individuals, the haplotype diversity value using the new set of highly informative Y-STRs (DYS385, DYS446, DYS449, and DYS464; multiplex III) was 0.9989, while that using the combined set of Y-STRs by adding DYS388 to the previously studied DYS434, DYS435, DYS436, DYS437, DYS438, and DYS439 (multiplex II) was 0.9509. A total of 297 different haplotypes were identified using the 19 Y-STR markers, of which 293 were unique and 4 were found twice. The overall haplotype diversity was 0.9999. The evaluation of the information of selected markers by combination of each marker with the minimal haplotype showed that DYS434, DYS435, DYS436, DYS437, and DYS438 do not significantly contribute to increment of haplotype diversity. However, respective conjunction of DYS464, DYS449, and DYS446 with the minimal haplotype considerably increased the haplotype diversity. Especially, DYS464 is expected to be the most useful marker that can be included in the expanded minimal haplotype. These results including the haplotype data at 19 Y-STR loci in the present study would provide useful information in forensic practice in a Korean population.     

Haplotype analysis of 17 Y-STR loci in a Japanese population

We analyzed 17 Y-STR loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385a/b, DYS438, DYS439, DYS456, DYS458 and DYS464a/b/c/d) in 252 Japanese males using three multiplex PCR typing systems. Two variants were found at DYS385a/b. A total of 244 different haplotypes were observed, of which 239 were found in single individuals. The haplotype diversity for the 17 loci was 0.996.     

Population study of 11 Y-chromosomal STR loci in Singapore Chinese

In this study of 212 unrelated Singapore Chinese males, allelic frequencies and gene diversities of 11 Y-chromosome specific STR loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385a/b, DYS438 and DYS439) were established. A total of 184 haplotypes were observed in the 212 individuals studied, of which 165 (89.67%) were unique. The most common haplotype was observed in five (2.35%) individuals. The overall haplotype diversity for the 11 Y-STR loci was 99.81%, and the discrimination capacity was 86.79%.     

甘肃东乡族男性24个Y-STR基因座遗传多态性(英文)

目的检测24个Y-STR基因座单倍型的遗传多态性,探讨其法医物证学应用价值。方法应用AGCU Y24试剂盒和3130xl型遗传分析仪对154例甘肃东乡族男性无关个体的24个Y-STR基因座(DYS391、DYS389Ⅰ、DYS439、DYS389Ⅱ、DYS438、DYS643、DYS456、DYS458、DYS437、DYS635、DYS448、DYS527a/b、Y-GATA-H4、DYS447、DYS19、DYS392、DYS522、DYS393、DYS388、DYS390、DYS385a/b、DYS444)进行检测,获得其基因型分布情况。结果 154例样本中共检出153种单倍型,单倍型多样性为0.991 5和个体识别率为0.994 0。结论 24个Y-STR复合扩增体系具有较高单倍型遗传多态性和个体识别率。     

Genetic analysis of 17 Y-chromosomal STRs haplotypes of Chinese Tibetan ethnic group residing in Qinghai province of China

We have co-amplified and analyzed 17 Y-chromosomal STRs loci including European 'extended haplotypes' (DYS19, DYS389 I, DYS389 II, DYS390, DYS391, DYS392, DYS393, DYS385a,b, DYS438, and DYS439) and also six additional loci DYS437, DYS448, DYS456, DYS458, DYS635 and YGATA H4 in a population sample of 167 healthy unrelated autochthonous male individuals of Chinese Tibetan ethnic minority group residing in Qinghai province of China using a multiplex PCR system. The gene diversity values for the Y-STRs loci ranged from a minimum 0.3581 for DYS391 locus to a maximum of 0.8702 for DYS385a,b loci in Tibetan population. A total of 163 haplotypes were identified in the set of Y-STR loci, of which 159 were unique and 4 found in two individuals. The overall haplotype diversity for the set of Y-STRs loci was 0.9998, and the discrimination capacity was 0.9938. Research results will be valuable for human identification and paternity tests in the region and for Chinese population genetic study in the future.     

High-throughput Y-STR typing of U.S. populations with 27 regions of the Y chromosome using two multiplex PCR assays

Two Y-chromosome short tandem repeat (STR) multiplex polymerase chain reaction (PCR) assays were used to generate haplotypes for 19 single copy and 3 multi-copy Y-STRs. A total of 27 PCR products were examined in each sample using the following loci: DYS19, DYS385 a/b, DYS388, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS426, DYS437, DYS438, DYS439, DYS447, DYS448, DYS450, DYS456, DYS458, DYS460, DYS464 a/b/c/d, H4, and YCAII a/b. The first multiplex is the Y-STR 20plex previously described by Butler et al. [Forensic Sci. Int. 129 (2002) 10]. The second multiplex is a novel Y-STR 11plex and includes DYS385 a/b, DYS447, DYS448 and the new markers DYS450, DYS456, DYS458, and DYS464 a/b/c/d. These two multiplexes were tested on 647 males from three United States population sample sets: 260 African Americans, 244 Caucasians, and 143 Hispanics. Haplotype comparisons between common loci included in the 20plex and 11plex assays as well as commercially available kits found excellent agreement across a sampling of the population samples. The multi-copy loci DYS464, DYS385, and YCAII were the most polymorphic followed by the following single copy Y-STRs: DYS458, DYS390, DYS447, DYS389II, DYS448, and DYS456. Samples containing the most common type in the European database could be well resolved with additional markers beyond the minimal haplotype loci.     

Y-STR haplotypes in Central Anatolia region of Turkey

Allele frequencies and haplotypes of the 11 Y-chromosome STRs loci, namely DYS19, DYS385a/b, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS438, and DYS439 were determined in a sample of 113 unrelated males from the Central Anatolia region of Turkey. In the 113 samples 106 different haplotypes were encountered, of which 100 were observed only once. The overall haplotype diversity was 0.9987. In the study, a duplication at locus DYS19 and locus DYS393 was observed. The results demonstrate that these loci will be very useful for human identification in forensic cases and paternity tests in the Central Anatolia region.     

Haplotype diversity of 16 Y-chromosomal STRs in three main ethnic populations (Malays, Chinese and Indians) in Malaysia

We have analyzed 16 Y-STR loci (DYS456, DYS389I, DYS390, DYS389II, DYS458, DYS19, DYS385a/b, DYS393, DYS391, DYS439, DYS635 or Y-GATA C4, DYS392, Y-GATA H4, DYS437, DYS438 and DYS448) from the non-recombining region of the human Y-chromosome in 980 male individuals from three main ethnic populations in Malaysia (Malay, Chinese, Indian) using the AmpFlSTR((R)) Y-filertrade mark (Applied Biosystems, Foster City, CA). The observed 17-loci haplotypes and the individual allele frequencies for each locus were estimated, whilst the locus diversity, haplotype diversity and discrimination capacity were calculated in the three ethnic populations. Analysis of molecular variance indicated that 88.7% of the haplotypic variation is found within population and 11.3% is between populations (fixation index F(ST)=0.113, p=0.000). This study has revealed Y-chromosomes with null alleles at several Y-loci, namely DYS458, DYS392, DYS389I, DYS389II, DYS439, DYS448 and Y-GATA H4; and several occurrences of duplications at the highly polymorphic DYS385 loci. Some of these deleted loci were in regions of the Y(q) arm that have been implicated in the occurrence of male infertility.     

Population genetics for Y-chromosomal STRs haplotypes of Chinese Tibetan ethnic minority group in Tibet

Y-chromosomal STRs loci were analyzed from a sample of 119 healthy unrelated autochthonous male individuals of Chinese Tibetan ethnic minority group using a multiplex PCR system. Allele and haplotype frequencies for DYS19, DYS389 I, DYS389 II, DYS390, DYS391, DYS392, DYS393, DYS385a,b, DYS438, and DYS439 were determined by the Y-PLEXtrade mark 12 kit. The gene diversity values for the Y-STRs loci ranged from 0.3347 (DYS438) to 0.9547 (DYS385a,b). A total of 110 haplotypes were identified in the Y-STR loci, among which 104 were unique, while six occurred more than once. The overall haplotype diversity for the Y-STRs loci was 0.9981, and the discrimination capacity was 0.9897. The results in the present study can be used for routine forensic application in the region, and enrich Chinese ethnical genetic informational resources.     

24个Y-STR基因座在云南苗族人群中的序列多态性

目的研究法医学常用Y-STR基因座在中国云南苗族男性个体中的序列多态性。方法采用M48磁珠提取纯化试剂盒提取样本DNA,使用ForenSeqTM DNA Signature Prep试剂盒制备文库,Miseq FGx平台进行测序,ForenSeq Universal Analysis v1.2.1软件进行数据分析,用Arlequin v3.5软件计算各Y-STR基因座相关的统计学参数,将Y-STR基因座长度多态性与序列多态性进行比较。结果108名云南苗族个体中共检出106种单倍型,总体单倍型多样性(HD)和Y-STR分型系统的分辨能力(DC)分别为0.9993和0.9815。24个Y-STR基因座共检出204个基因,基因多样性(gene diversity,GD)值为0.2177~0.9481,15个Y-STR基因座的GD值大于0.6。DYF387S1、DYS390、DYS389II、DYS437、DYS438、DYS448、DYS612基因座存在长度相同的基因核心序列不同的情况。结论该24个Y-STR基因座在云南苗族男性人群中具有丰富的遗传多态性。研究结果可为Y-STR数据库的建立、群体遗传学和法医学实践提供参考。     

珠海地区汉族人群10个Y-STR基因座的多态性

目的 调查珠海地区汉族人群10个Y-STR基因座及其单倍型的遗传多态性，探讨其法医学应用价值。方法 应用Y-PLEX荧光标记复合扩增系统，对珠海地区汉族200名无关男性个体进行10个Y-STR基因座的复合扩增，用ABI310型基因分析仪对扩增产物进行检测，统计10个Y-STR基因座的群体遗传学参数。结果 9个Y-STR基因座分别检出5、6、6、5、4、5、5、5、7个等位基因，DYS385基因座检出44种单倍型；GD值最低为0.3904(DYS391)，最高为0.9497(DYS385)；10个Y-STR基因座共同构成的单倍型161种，其中134种单倍型只出现1次，20种单倍型出现2次，3种单倍型出现3次，3种单倍型出现4次，1种单倍型出现5次，累计GD值为0.9948。结论 10个Y-STR基因座具有较高的个体识别能力，可应用于法庭科学中的个体识别与亲权鉴定。     

云南汉族人群11个Y-STR基因座遗传多态性调查及法医学应用

目的调查11个Y-STR基因座及其单倍型在云南汉族人群中的遗传多态性分布,探讨其法医学应用价值,为法医学应用提供基础数据。方法应用Powerplex!Y系统对云南汉族201名无关男性个体进行11个Y-STR基因座的复合扩增,用ABI310型基因分析仪对扩增产物进行检测,统计其群体遗传学参数。结果Powerplex!Y系统前10个Y-STR基因座分别检出3、5、6、8、5、4、5、8、4、7个等位基因,DYS385a/b基因座检出56种单倍型;GD值最低为0.4273(DYS438),最高为0.9747(DYS385a/b);观察到11个Y-STR基因座共同构成的单倍型175种,其中有154种单倍型只出现1次,16种出现2次,5种出现3次,累计GD值为0.9984。结论11个Y-STR基因座具有较强的个体识别能力,可应用于云南地区汉族人群的个体识别与亲权鉴定。     

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.     

复合扩增20个Y-STR基因座及其法医学的应用

目的建立20个Y-STR基因座的复合扩增体系,进行遗传多态性调查,并评价其法医学应用价值。方法采用五色荧光素标记技术,对20个Y-STR基因座(DYS391、DYS389Ⅰ、DYS390、DYS389Ⅱ、DYS438、DYS460、Y GATA H4、DYS456、DYS439、DYS635、DYS448、DYS393、DYS388、DYS437、DYS19、DYS392、DYS458、DYS447、DYS385 a/b)进行复合扩增和毛细管电泳检测;调查辽宁汉族376名无关男性个体20个Y-STR基因座的遗传多态性数据;并对系统性能进行检测。结果本文方法同时检测20个Y-STR基因座,在376名个体中共检出376种单倍型,基因多样性在0.371 1～0.969 8之间;方法特异性好,分型结果准确稳定,灵敏度达0.062 5ng,实际案例常见生物检材的检验结果良好。结论20个Y-STR基因座复合扩增检测法可以用于实际案例检验,调查所获数据对建立Y-STR数据库和相关研究和应用具有重要意义。     

Y-chromosome STR haplotype diversity in Brazilian populations

A sample of 198 unrelated males distributed among the five geopolitical regions in Brazil were typed for the minimal Y-STR haplotype composed of microsatellite loci DYS19, DYS385I/II, DYS389I, DYS389II, DYS390, DYS391, DYS392 and DYS393. Gene frequency data, gene diversity, haplotype diversity and power of discrimination were estimated. An AMOVA indicated that 99.97% of the haplotypic variation is found within regions and only a small 0.03% and non significant variation is found among the five regions (Fst=0.00031, P-value=0.43). This result suggests that a single national database of Y-STR haplotypes can be used in the quantitative assessment of matches in forensic casework in the Brazilian population. A significant haplotype diversity of 99.8% was found and 172 different haplotypes were observed in 198 chromosomes. Haplotype (14-11, 14-13-29-24-11-13-13) with five occurrences in 198 chromosomes was the most frequent in Brazil.