Allele frequencies and haplotypes of six new Y-specific STR loci in Koreans

Six Y-specific STR loci, DYS434, DYS435, DYS436, DYS437, DYS438, and DYS439 were analyzed in 300 unrelated Korean males using single multiplex PCR system.     

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.     

Sequence structure of 12 novel Y chromosome microsatellites and PCR amplification strategies

In this work, we present sequencing data for 12 recently reported Y STR loci (DYS434, DYS435, DYS436, DYS437, DYS438, DYS439, GATA A10, GATA 7.1, GATA 7.2, GATA C4, GATA H4, GATA A4), as well as the PCR multiplex strategies we implemented for their detection.Sequenced allelic ladders were constructed and a nomenclature for these new systems is proposed based on the sequence structure and following ISFG recommendations.GATA A4 and DYS439 are likely the same STR. They have the same STR structure and the alleles are always the same in the same individuals.Sequence polymorphisms were observed in the GATA C4 and DYS437 STRs. The variation in DYS437 was associated with a specific population group and is very interesting not only for forensic genetics but also for anthropological studies.     

High resolution Y chromosome typing: 19 STRs amplified in three multiplex reactions

Nineteen Y-specific short tandem repeat (STR) loci have been amplified in 768 samples from the Iberian Peninsula in order to evaluate their usefulness in forensic casework. Two previously published multiplex reactions by Thomas et al. [Hum. Genet. 6 (1999) 577] (MS1, modified here: DYS19, DYS388, DYS390, DYS391, DYS392 and DYS393) and by Ayub et al. [Nucl. Acids Res. 28 (2000) e8] (CTS: DYS434, DYS435, DYS436, DYS437, DYS438 and DYS439) plus a novel one reported here (EBF: DYS385, DYS389, DYS460, DYS461, DYS462 and amelogenin) have been used. DYS385, DYS439 and DYS391 were the most informative loci with allele diversities of 0.7997, 0.6683 and 0.5940, respectively. A total of 635 different haplotypes were observed, of which 573 (90.24%) were found in single individuals. The overall haplotype diversity was 0.9988 and that obtained by each multiplex system was 0.9812 for EBF, 0.9292 for MS1 and 0.9089 for CTS.     

3个Y-STR的复合扩增及其单倍型

目的 建立复合扩增Y-STR基因座的体系,获得广东汉族人的单倍型频率。方法 复合扩增DYS439、DYS437和DYS434三个基因座,用聚丙烯酰胺凝胶电泳银染法进行基因分型,检测广东汉族327名无关男性个体的单倍型。结果 3个基因座分别检出6个、4个和4个等位基因,共38种单倍型,其单倍型的个体识别率为0.8796。结论 Y-STR基因座复合扩增体系和建立的Y染色体STR数据库,在法医学鉴定中有应用意义。     

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。     

Y chromosomal STR haplotypes in the northeastern China Han population

Haplotype frequencies of 20 Y chromosome STR loci, DYS19, DYS385 (a/b), DYS389 (I, II), DYS390, DYS391, DYS393, DYS434, DYS435, DYS437, DYS438, DYS439, DYS441, DYS442, DYS444, DYS445, DYS446, DYS452 and DYS456 were determined from a sample of 122 unrelated males in the northeastern China Han populations.     

STR data for nine Y-chromosomal loci in Guinea Equatorial (central Africa)

Allele and haplotype frequencies for nine Y-specific STR loci (DYS19, DYS389-I, DYS389-II, DYS390, DYS391, DYS393, DYS434, DYS437, and DYS439) were obtained from a sample of 57 males from Guinea Equatorial.     

Chimpanzee homologous of human Y specific STRs. A comparative study and a proposal for nomenclature

Eleven Y specific microsatellites, previously studied in humans, were typed for fragment length and sequenced in chimpanzees (Pan troglodytes).The primers described by Ayub et al. (Nucleic Acids Res. 28, 2000, 2) for amplifying DYS434, DYS435, DYS436, DYS437, DYS438, DYS439 and those described by White et al. (Genomics, 57, 1999, 433) for GATA A10, A7.1, A7.2, C4, and H4, were used to amplify DNA samples from chimpanzees.Primers described for Y GATA A4 were found to amplify the same region as reported for DYS439. Moreover, the GATA A4 forward primer only matches the repeat flanking region in 14 of the 28bp, being responsible for a very weak amplification. Therefore, this system was not included in this study.The analysis of the repeat and sequence structure observed in chimpanzee and human Y chromosomes allowed evolutionary comparisons as well as the basis for improving Y STR nomenclature and therefore, a unified nomenclature for these novel STRs is proposed to the scientific community following ISFG recommendations.     

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.     

Population data for 16 Y-chromosome STRs in four populations from Pyrenees (Spain)

Population frequencies for the eight Y-STR loci included in the "minimal haplotype" from Y-STR Haplotype Reference Database (YHRD) plus other eight Y-STRs (DYS434, DYS435, DYS436, DYS437, DYS438, DYS439, GATA H4 and GATA A10) were obtained for a sample of 133 males from four main geographical areas in the Pyrenees (Spain): Vall D'Aran (Lérida), Cerdanya (Gerona), Alt Urgell (Lérida) and Jacetania (Huesca). Haplotype diversities were estimated in the four populations.     

Y-chromosomal STR haplotypes in Inuit and Danish population samples

Nineteen Y-chromosomal short tandem repeats (STRs), DYS19, DYS389-I, DYS389-II, DYS390, DYS391, DYS392, DYS393, DYS385, DYS388, DYS434, DYS435, DYS436, DYS437, DYS438, DYS439, DYS460, DYS461 and DYS462 were typed in Inuit (n=70) and Danish (n=62) population samples.     

9个Y-STR基因座荧光复合扩增系统的法医学应用

目的建立9个Y-STR基因座的复合扩增系统,提高Y-STR的法医学检测效能。方法6-FAM标记DYS434、Y-GATA-A10、DYS438、DYS439,HEX标记DYS531、DYS557、DYS448,TAMRA标记DYS456、DYS444引物,PCR复合扩增,毛细管电泳得到结果,考察扩增系统的个体识别能力、灵敏度、特异性、组织同一性。结果所建立的9个Y-STR复合扩增系统分型清晰,单倍型多样性达0.9968,特异性好,灵敏度高(0.5ngDNA),并且在男女混合斑检验上较常染色体STR分型更有优势。结论9个Y-STR复合扩增系统具有较高的识别能力,对建立Y染色体STR数据库,研究群体遗传学和进行法医学混合斑物证鉴定有重要意义。     

Allele frequencies and haplotypes of the STR loci of the PowerPlex Y-system in southern populations from Korea

In this study, 12 Y-specific STR loci--DYS391, DYS389 I, DYS439, DYS389 II, DYS438, DYS437, DYS19, DYS392, DYS393, DYS390, DYS385a/b--were analyzed in 259 unrelated males from the southern populations in Korea using the PowerPlex Y PCR system.     

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).     

Characterization and haplotype analysis of 10 novel Y-STR loci in Chinese Han population

In this study, we analyzed allelic sequences of 10 novel Y-specific STR loci, DYS454, DYS510, DYS513, DYS520, DYS542, DYS544, DYS552, DYS561, DYS587 and DYS593, surveyed the distribution of haplotypes in a Chinese Han population. Extracted DNA was amplified with PCR, followed by a horizontal non-denaturing polyacrylamide gel electrophoresis with discontinuous buffer system. Purified alleles were sequenced on DNA sequencer (ABI Model 377) to verify the number of motif repeats. The number of alleles observed at each locus ranged from 3 to 8, yielding 102 haplotypes in 103 unrelated males samples. The allele diversity values for each locus ranged from 0.2099 (DYS544) to 0.7523 (DYS552). The haplotype diversity using all these loci was 0.9998. Our study revealed that they were valuable Y-specific markers for forensic applications.     

Y chromosome STR haplotypes in three UK populations

Eleven Y chromosome short tandem repeat markers: DYS19, DYS385, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438 and DYS439, have been typed in the three main UK population groups: Caucasians, Afro-Caribbeans and South Asians. Existing PCR reactions were adapted to incorporate DYS437, DYS438 and DYS439. The observed 11 loci haplotypes and the individual allele frequencies for each locus are presented. Distinct differences for most markers were observed between the population groups studied.     

Haplotype frequencies of 16 Y-chromosome STR loci in the Barcelona metropolitan area population using Y-Filer kit

Haplotype frequencies for 16 Y-chromosomal short tandem repeat (STR) loci, included in the Y-Filer kit, were determined in 247 unrelated healthy individuals from the Barcelona metropolitan area (Catalonia, NE Spain). After PCR amplification and denaturing PAGE electrophoresis, DYS456, DYS389I, DYS390, DYS389II, DYS458, DYS19, DYS385a/b, DYS393, DYS391, DYS439, DYS635, DYS392, Y GATA H4.1, DYS437, DYS438 and DYS448 loci were typed. The aim of this study is to evaluate the performance in our population of the 16 loci of the Y-chromosome present in the new Y-Filer commercial identification kit, and acquire haplotype frequencies for mathematic processing of the forensic diagnosis in our geographical working area. In this sample, all haplotypes were unique. From the forensic point of view, the combined polymorphisms of the Y-Filer kit provide a high diagnostic efficiency.     

Evaluating the informative power of Y-STRs: a comparative study using European and new African haplotype data

Male individuals from Maputo (Mozambique) were sampled and 18 Y-STRs were typed: the nine currently used to define the "minimal haplotype" employed in the European, American and Asian "Y-STR Haplotype Reference Databases", as well as the recently described DYS434, DYS437, DYS438, DYS439, DYS460, DYS461, GATA A10, GATA C4 and GATA H4. Allele and haplotype frequencies were estimated in a sample of 112 individuals, where it was possible to define 101 haplotypes, with an observed haplotype diversity (HD) of 0.9973. Allele diversity varied between 0.0179 and 0.9220, DYS385 showing the highest level of polymorphism and DYS392 the lowest. When considering only the most recent Y-STRs, the degree of diversity varied between 0.4011 (DYS438) and 0.6910 (GATA C4), except for DYS434 and DYS437 where a very low diversity was observed (0.0700 and 0.0526, respectively). When analysing the same 112 individuals for the nine Y-STRs included in the minimal haplotype, 78 haplotypes were distinguished with a corresponding observed diversity of 0.9884, a considerably lower value than those for Northern Portugal (n=208; HD: 0.9925) and Macao (n=63; HD: 0.9990). Concerning all 18 Y-STRs studied in this population, the observed diversity demonstrates their usefulness in forensic applications, with the exception of DYS434, DYS437 and DYS392. However, since the informative power of a marker has to be judged in haplotype context, a simple software, allowing the evaluation of the increase of HD through the addition of any combination of new markers to the minimum haplotype was designed. The statistical approach devised, demonstrates that an increment on HD is more rapidly obtained for the Mozambican database when adding GATA A10 or DYS439, DYS460, GATA C4, DYS461 or GATA H4, in this order, to the minimal haplotype. DYS434, DYS437 and DYS438, in conjunction with all the other 15 Y-STRs, do not contribute to an increment on HD. When applying the same approach to an European sample (Northern Portugal), the first three Y-STR choices coincide, but the next order of markers are GATA H4, then DYS437 and finally DYS461. In this sample, DYS434, DYS438 and GATA C4 do not increment HD any further.     

Applying the 16 Y-chromosome STRs in the population of central Poland

Haplotype and allele frequencies for the panel of 16 Y-chromosome STR loci, namely DYS19, DYS385, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635 and Y GATA-H4 were determined in a population sample of 200 unrelated males from the central region of Poland. The 191 different haplotypes were identified, of which 182 haplotypes were unique and 9 were duplicated. None of observed haplotypes appears more than twice in the investigated population. The haplotype discrimination capacity was 0.955, and combined gene diversity was 0.9999. The analysed set of 16 Y-STRs is very useful in forensic practise to identify males and trace paternal lineages.