Y-chromosomal Short Tandem Repeat Research Articles

Genetic characteristics of 23 Y-chromosomal STRs in the Kinh population in Northern Vietnam.

We collected and analysed the genetic characteristics of 23 Y-STR data of 200 unrelated Kinh individuals living in the North of Vietnam. Haplotype frequencies and forensic parameters were calculated, showing high discrimination value. Population comparison analysis was performed to determine the genetic relationship with neighbouring ethnicities, in particular with Thai and Han populations.

Kashmiris phylogenetic depictions through uniparental and biparental genetic markers.

In this study, the Kashmiri population was genetically screened for fifteen autosomal STRs, seventeen Y-chromosomal STRs and mitochondrial DNA control region SNPs. Autosomal STRs exhibited that D2S1338 was the most discriminatory locus with value of 0.963 whereas combine power of discrimination was 0.999999999999999. On the other hand, analysis of Y-chromosomal STRs generated 59 distinct haplotypes of which 52 were unique with haplotype diversity value of 0.99752. Mitochondrial D-loop analysis resulted that haplogroups M and U were found most prevalent with 25% each. Haplotypic data of Y-STRs was submitted to YHRD under accession number YA004153 whereas mitochondrial DNA control region (CR) sequences were submitted to EMPOP with accession number EMP00683.

Genetic structure and forensic characteristics of Tibeto-Burman-speaking \xdc-Tsang and Kham Tibetan Highlanders revealed by 27 Y-chromosomal STRs

Culturally diverse Tibetans (Ü-Tsang, Kham and Ando) harboring a unique molecular mechanism that allows them to successfully adapt to hypoxic environments in the Qinghai-Tibet Plateau have been a subject of great interest in medical genetics, linguistics, archeology and forensic science. However, forensic characteristics and genetic variations of the Y-chromosomal 27-marker haplotype included in the Yfiler Plus system in the Ü-Tsang and Kham Tibeto-Burman-speaking Tibetans remain unexplored. Thus, we genotyped 27 Y-STRs in 230 Shigatse Ü-Tsang Tibetans (SUT) and 172 Chamdo Kham Tibetans (CKT) to investigate the forensic characterization and genetic affinity of Chinese Tibetan Highlanders. The haplotype diversities were 0.999962028 in SUT and 0.999796002 in CKT. Forensic diversity measures indicated that this 27-Y-STR amplification system is appropriate for routine forensic applications, such as identifying and separating unrelated males in deficiency paternity cases, male disaster victims and missing person identification and determining male components in sexual assault cases. Moreover, the genetic relationships among 63 worldwide populations (16,282 individuals), 16 Asian populations, and 21 Chinese populations were analyzed and reconstructed using principal component analysis, multidimensional scaling plots and a phylogenetic tree. Considerable genetic differences were observed between Tibetan populations and other geographically/ethnically diverse populations (Han Chinese). Our studied SUT and CKT have a genetically closer relationship with Gansu Ando Tibetans than with other Asians. In total, our analyses indicated that subpopulation structures exist among Asian and Chinese populations, and population-specific reference databases should be established for forensic applications.

A comprehensive mutation study in wide deep-rooted R1b Serbian pedigree: mutation rates and male relative differentiation capacity of 36 Y-STR markers

Haplotyping of Y-chromosomal short tandem repeats (Y-STRs) reflects the paternal lineage, although, the father-son pair profiles may differ due to the germline mutations. In order to discriminate between closely related males in criminal cases, as well as for the correct application of Y-STRs in the paternity/kinship analysis and determination of the most recent common ancestor in the familial searching or genealogy research, the assessment of mutation rates of routinely used Y-STRs is of a great importance. We genotyped 120 males belonging to one wide deep-rooted pedigree separated by 1–20 meiosis. The haplotypes of analyzed males distributed over 12 different families (according to their surnames), with 113 originating from one ancestor, and the remaining 7 from the second, closely related to the previous one, belong to the R1b haplogroup. The analysis was performed using Powerplex® Y23 kit, Yfiler™ plus kit and 13 rapidly mutating (RM13) Y-STRs. In 20,855 allele transmissions, 175 mutations (61% repeat losses and 39% gains) and one gene conversion event were found at 25 out of 36 markers. The medians of locus-specific mutation rates estimated using the Bayesian approach ranged from 1.42 × 10−3 (95% credible interval (CI): 0.05 × 10−3 - 7.56 × 10−3) for loci with no observed mutations to 130.91 × 10−3 (95% CI: 102.91 × 10−3 - 162.78 × 10−3) for DYF399S1, with a median rate across all 36 markers of 10.06 × 10−3 (95% CI: 8.65 × 10−3 - 11.61 × 10−3). In 6349 male relative pairs, the 36 Y-STR set distinguished 98.4% relative pairs by at least one mutation, compared to 95.9%, 65.5% and 57.4% for RM13, Yfiler™ plus, and Powerplex® Y23 set, respectively. The extra-pair paternity rate was estimated at 11.9 × 10−3 (95% CI: 4.4 × 10−3 – 25.8 × 10−3) fitting within the range reported for some European populations. A significant positive correlation was observed between fathers’ ages at the time of the Y chromosome transmission and mutability rates (R2 = 0.9495, p = 0.0256), with more significant results when analyzing RM markers (R2 = 0.9827, p = 0.0087).

Phylogenetic analysis and haplotype diversity in Christian residents of Lahore, Pakistan, using 17 Y-chromosomal STR loci.

This population data pertains to 250 unrelated male residents of the Christian population of Lahore, Pakistan. AmpF/STR®Yfiler PCR amplification kit was utilized for evaluation of 17 Y-chromosomal STRs loci. Ancestral lineages and parameters of forensic importance were examined leading to recognition of 135 unique out of 175 total haplotypes with diversity value of 0.991. All Y-STRs portrayed high discrimination power where DYS385 depicted the maximum value of 0.917. Multidimensional Scaling (MDS) and Analysis of Molecular Variance (AMOVA) were generated using YHRD (Y-Chromosome STR Haplotype Reference Database) tools. A pair-wise genetic distance comparison using Rst, Fst, and associated p values lead to the conclusion that studied Christian community was significantly demarcated from the rest of the global populations.

Novel Y-chromosome short tandem repeat sequence variation for loci DYS710, DYS518, DYS385, DYS644, DYS612, DYS626, DYS504, DYS481, DYS447 and DYS449.

In forensic casework, Y-chromosome short tandem repeats (Y-STRs) are essential for differentiating between unrelated males and resolving the male component of admixed biological evidence. While the majority of Y-STRs are adequate for discriminating between different paternal lineages, rapidly mutating Y-STRs are necessary for improving discrimination between males within populations of low Y-chromosome diversity and between paternal relatives. Alternatively, sequencing of Y-STRs may also improve the discrimination between isometric Y-STR alleles by identifying variation in the repeat unit pattern arrangements and by identifying SNPs in the flanking region or within the STR repeat unit itself. In this report, a total of 153 DNA sequences are presented across the Y-STR loci DYS710, DYS518, DYS385, DYS644, DYS612, DYS626, DYS504, DYS481, DYS447 and DYS449. A total of 94 Y-STR sequences provided herein are reported for the first time, of which 37 sequences represent alleles showing size homoplasy, 34 sequences of known alleles for which sequence data has been unavailable and a total of 23 novel allele sequences across loci DYS644, DS447, DYS710 and DYS504. This study further encountered a rare sequence variant in the 5' flanking region of DYS385 and a total of two SNPs in the repeat structure at DYS481 and DYS449.

On the origins of the Sakhas' paternal lineages: Reconciliation of population genetic / ancient DNA data, archaeological findings and historical narratives

Sakhas are Turkic-speaking people from Northeastern Siberia, constituting the largest ethnic population in Yakutia. According to popular legends, two heroes who arrived from the Asian Steppe during the late medieval ages, namely Elley Bootur and Omogoy Baay, are the progenitors of all Sakhas. While there is ample historical evidence towards the existence of such legendary characters, archaeological findings and ancient DNA studies provide further insights on actual Sakha ethnogenesis. This study aims to establish the genetic basis of the legendary characters Elley and Omogoy, at least through their paternal lineages, and then to reveal the prevalence of these Y-chromosomes among the contemporary Yakut population. To this end, an attempt was made to delineate fact from fiction with respect to the Sakhas’ paternal lineages through a reconciliation of population genetics data on contemporary and ancient Sakhas, along with archaeological evidence and well-recorded historical narratives. To achieve this, 17-loci Y-chromosomal STR and haplogroup analyses were conducted on a contemporary Sakha who was presumably a direct descendant of Elley’s paternal line. Furthermore, 367 Sakha Y-chromosomal STR haplotypes were compiled from the literature and elsewhere, and searched against the Y-chromosome STR Haplotype Reference Database to find potential matches with non-Sakha populations. Sakhas’ paternal lineages were found to comprise 6 major descent clusters, each corresponding to an ancient clan. The most prevalent haplotype indeed corresponded to that of the contemporary Elley descendant. Furthermore, data presented in the current work suggests a Khitan origin for this paternal line. As shown before, Sakhas’ paternal lineages were found to be very homogenous and exhibit signs of a strong population bottleneck. Reconciled genetic and archaeological data agree well with Sakhas’ historical narratives, whereby, at least from a paternal lineage perspective, only a few individuals may have arrived from Central Asia and had reproductive success that led to the Sakha Y-chromosomal diversity today.

RETRACTED ARTICLE: Y Chromosomal STR haplotypes in Chinese Uyghur, Kazakh and Hui ethnic groups and genetic features of DYS448 null allele and DYS19 duplicated allele.

Y Chromosomal short-tandem repeats (Y-STRs) provide valuable information that can be used for forensic investigation and population studies. The Yfiler® Plus PCR Amplification Kit allows the multiplex amplification of 27 Y-STRs, including seven rapidly mutating markers. With the kit, 447 unrelated males of three minorities (161 Uyghurs, 130 Kazakhs and 156 Huis) from the Xinjiang Uighur Autonomous Region of China were analysed in this study. The gene diversity values of the 27 Y-STRs in the Uyghur, Kazakh and Hui groups ranged from 0.4770 to 0.9545, 0.3897 to 0.9375 and 0.4621 to 0.9725, respectively. One specific sequence pattern of null alleles at the DYS448 locus was confirmed. The individuals carrying the null alleles at the DYS448 locus belonged to haplogroups C2b and C2b1a1b1, while those carrying duplicated alleles at the DYS19 locus belonged to haplogroups C2b1a2 and G2a. A total of 155, 118 and 146 distinct haplotypes were obtained in these three groups, respectively, with overall haplotype diversities of 0.9998, 0.9993 and 0.9996, respectively. Compared with 17 Y-plex, 27 Y-plex demonstrated an increased power of discrimination, especially for the Kazakh group. Visualisation of pairwise genetic distances between 24 ethnic groups in China using multidimensional scaling (MDS) demonstrates the distribution of various groups, which is largely in keeping with ethno-geographic patterns.

Alleles dropout patterns of Y-short tandem repeats in infertile males with Y chromosome microdeletions

Y chromosomal short tandem repeat (Y-STR) typing is the most commonly used genetic technique in forensic studies. However, there may be a limit to the application of Y-STR in forensic science as Y-STR loci are subject to loss or variation caused by the higher chromosomal structures' spontaneous mutation rate. Located in the long arm of the Y chromosome, azoospermia factor (AZF) have been shown to participate in spermatogenesis and its deletion could cause infertility. However, little is known about the Y-STR dropout pattern in individuals with Y chromosome microdeletions. In this study, 85 infertile males with Y chromosome interstitial deletion were identified and special Y-STR allele dropout patterns were analyzed by employing a Y-STR Commercial Kit and a Y chromosome Deletion Kit. Results demonstrate that AZF a region deletion are related to DYS439-DYS389I-DYS389II alleles dropout, while AZF b region or c region deletions correlate to DYS448 allele dropout. Null DYS385-DYS392-DYS448 alleles were observed in AZF b+c+d region deletion individuals. While null DYS390-Y-GATA-H4-DYS385-DYS392-DYS448 alleles were observed in AZF a+b+c+d large region deletion individuals. Our data suggest that Y chromosome microdeletions may indicate specific Y-STR locus dropout patterns.

The massive assimilation of indigenous East Asian populations in the origin of Muslim Hui people inferred from paternal Y chromosome.

The Hui people are the adherents of Muslim faith and distributing throughout China. There are two contrasting hypotheses about the origin and diversification of the Hui people, namely, the demic diffusion involving the mass movement of people or simple cultural diffusion. We collected 621 unrelated male individuals from 23 Hui populations all over China. We comprehensively genotyped more than 100 informative Y-chromosomal single nucleotide polymorphisms and 17 Y-chromosomal short tandem repeats (STRs) on those samples. Co-analyzed with published worldwide populations, our results suggest the origin of Hui people has involved massive assimilation of indigenous East Asians with about 70% in total of the paternal ancestry could be traced back to East Asia and the left 30% to various regions in West Eurasia. The genetic structure of the extant Hui populations was primarily shaped by the indigenous East Asian populations as they contribute the majority part of the paternal lineages of Hui people. The West Eurasian admixture was probably a sex-biased male-driven process since we have not found such a high proportion of West Eurasian gene flow on autosomal STRs and maternal mtDNA.

Polymorphisms and microvariant sequences in the Japanese population for 25 Y-STR markers and their relationships to Y-chromosome haplogroups

Y-chromosomal short tandem repeat (Y-STR) markers have been used for forensic purposes such as kinship analysis of male-linage and detection of a male DNA component in a mixture of male and female DNA. Recently, rapidly mutating Y-STR (RM Y-STR) markers were reported that are expected to help distinguish close male relatives. This study provides data of Y-chromosomal haplotypes for 25 Y-STR markers, including six RM Y-STR markers (DYS576, DYS627, DYS518, DYS570, DYS449 and DYF387S1) typed with the Yfiler™ Plus kit in 1299 males of the Japanese population. Discrimination capacity increased from 87.2% for 16 Y-STR markers with the Yfiler™ kit to 99.6% for 25 Y-STR markers with the Yfiler™ Plus kit. We characterized sequences of observed microvariant alleles of eight Y-STR markers and a low-amplified allele of DYS390 by Sanger sequencing. DYF387S1, a multi-locus Y-STR marker that is located at two positions on the human Y-chromosome, was observed in tri-allelic patterns in 51 of 1299 samples (3.9%) and we found an extremely high frequency of the tri-allelic pattern of DYF387S1 in haplogroup C-M131. We also analyzed Y-STR gene diversity in each haplogroup and its relevance to mutation rates.

Genetic diversity and phylogenetic analysis of 29 Y-STR loci in the Tibetan population from Sichuan Province, Southwest China.

Y-Chromosomal short tandem repeat polymorphisms (Y-STRs) are widely applied in human forensic cases and population genetic studies. There is a lack of information about the Sichuan Tibetan population in the Y-STR Haplotype Reference Database (YHRD, https://yhrd.org, release 59). In this study, 502 unrelated male individuals residing in the Sichuan Province were recruited and genotyped at 29 Y-STR loci. A total of 479 haplotypes were observed, 460 (96.03%) of which were unique. The haplotype diversity (HD) and discrimination capacity (DC) for the Sichuan Tibetan population were 0.9998 and 0.9542, respectively. To reveal the genetic diversities and relationships between the Chinese Sichuan Tibetan and 29 other previously reported populations, forensic parameter analysis, multi-dimensional scaling, and phylogenetic reconstruction were performed. The results showed that the Sichuan Tibetan population was relatively isolated from other populations, suggesting that genetic proximity is in line with geographical boundaries.

Analysis of 23 Y-STR loci in Chinese Jieyang Han population.

Genetic polymorphisms of 23 Y-chromosomal short tandem repeats (Y-STR) were investigated by PowerPlex® Y23 System in 328 unrelated male participants from Jieyang, Guangdong Province of China. A total of 293 haplotypes were obtained, and the haplotype diversity (HD) and discrimination capacity (DC) were 0.9991 and 0.8933, respectively. By comparing Jieyang population with nine other populations, Jieyang Han showed close genetic relationships with southern China-related Han populations. In conclusion, our study increased the Y-chromosome haplotype reference database and could provide useful information for forensic investigation and population genetics.

Evaluation of 13 rapidly mutating Y-STRs in endogamous Punjabi and Sindhi ethnic groups from Pakistan.

Y-chromosomal short tandem repeats (Y-STRs) are commonly used to study population histories, discover ancestral relationships, and identify males for criminal justice purposes. Y-STRs being largely in forensic use have low haplotype diversity in some populations and cannot discriminate between paternal male relatives. Rapidly mutating Y-STRs (RM Y-STRs) were breakthrough and have been paid much attention. A set of 13 rapidly mutating (RM) Y-STRs (DYF387S1, DYF399S1, DYF403S1a/b1/b2, DYF404S1, DYS449, DYS518, DYS526I/II, DYS547, DYS570, DYS576, DYS612, DYS626, and DYS627) typically reveals higher haplotype diversities than the commercially available Y-STR sets and allows differentiating male relatives for which commercial Y-STR sets are usually not informative. Here, we amplified the 13 RM Y-STRs in 168 (37 Sindhi and 131 Punjabi) individuals from Pakistani population, which is characterized by high rates of endogamy. The haplotype diversity and discrimination capacity were 1. Allelic frequencies ranged from 0.0060 to 0.5060, while gene diversity ranged from 0.6759 (DYS526a) to 0.9937 (DYF399S1). A total 319 different alleles were observed. Results of our study showed that RM Y-STRs provided substantially stronger discriminatory power in Pakistani populations.

Identification of extra alleles in DYS385a/b multi-allelic patterns.

Y chromosome short tandem repeats (Y-STRs) are widely used in forensic DNA analysis. Y-STRs usually genotyped as a monoallelic pattern, or a diallelic pattern at some double-copy loci. Abnormal genotypes with three or four alleles have been reported at DYS385a/b, which is a double-copy locus. However, multi-allelic patterns with more than four alleles have not been reported at this locus. In this study, abnormal five-allelic patterns at DYS385a/b locus were observed in 2 out of 7760 unrelated males from Henan Province, detected by the HG19+14Y fluorescence detection kit; and abnormal six-allelic pattern was observed in 1 out of 4920 unrelated males from Guangdong Province, detected by the AGCU Data Y30 fluorescence kit. The genotypes of these abnormal samples were confirmed again by the Yfiler® Plus and PowerPlex® Y23 kits. In order to understand the genomic structure of the extra alleles at this locus, forward and reverse primers were designed to sequence the three samples. The results showed that the five-banded and six-banded pattern genotype did exist at DYS385a/b locus. These data enriched the knowledge about multi-allelic patterns at DYS385a/b locus, which allowed the use of DYS385a/b profile in forensic analysis, even with multi-allelic patterns.

Forensic characteristics and phylogenetic analysis of 23 Y-STR loci in the Miao population from Guizhou province, southwest China

Background: Investigation of haplotype/allele frequency data of Y-STR loci in ethnically diverse populations is essential for forensic reference database construction and genetic application. However, the population genetic characteristics of the Chinese Miao minority from Guizhou Province remain uncharacterised.Aim: To assess forensic characteristics for 23 Y-Chromosomal STR loci in Guizhou Miao and explore population genetic relationships with geographically neighbouring populations.Subjects and methods: Twenty-three Y-Chromosomal STRs were genotyped using the Powerplex® Y23 system in 103 unrelated Chinese Miao males from Guizhou Province, southwest China. Haplotypes and forensic parameters were obtained. Population relationships of Guizhou Miao with others were revealed using AMOVA and an MDS plot.Results: A total of 96 haplotypes were identified with overall haplotype diversity (HD) and discrimination capacity (DC) of 0.9985 and 0.9320, respectively. Genetic differentiation was observed with most of the comparison populations, prominently for Guizhou Shui.Conclusion: The 23 Y-STR loci were highly polymorphic and discriminating in the Guizhou Miao population and could be used for forensic practice and population genetic studies. Population relationship analysis revealed Guizhou Miao had a close genetic relationship with geographically close Guizhou Gelao, as well as Han majorities derived from different regions.

Y chromosome genetic data defined by 23 short tandem repeats in a Serbian population on the Balkan Peninsula

Background: Serbs mainly live in the territory of the recently re-established state of Serbia. However, the turbulent history in the Balkan Peninsula has led to settlement of Serbs not only within present day Serbia, but also in different parts of neighbouring countries.Aim: To define polymorphisms of 23 Y-chromosomal short tandem repeat (STR) loci in a modern Serbian population from the central part of the Balkan Peninsula.Subjects and methods: The reference sample consisted of 303 men declared as Serbs over three generations. Localities of the collected materials include the territories of Serbia, Bosnia and Herzegovina, Croatia and Montenegro. DNA samples were typed using the PowerPlex®Y23 amplification kit.Results: The highest locus diversity was observed for DYS385 and DYS481. In this study the most abundant haplogroups were I2a, E1b1b, R1a and I1. The largest genetic distances between the Serbs and other close Southern Slavs were for the Macedonians and Slovenians.Conclusion: This study is the first one to define STR polymorphism of Serbian people not only from Serbia but also from other parts of the Balkan Peninsula. The presented genetic data may be useful in further examinations of the genesis and genetic structuring of the present-day Serbian gene pool.

Profile interpretation of extremely long alleles at DYF387S1 and DYS447 migrated into allele range of adjacent loci

Two rare cases of long alleles at Y-chromosome short tandem repeat (Y-STR) loci (DYF387S1 and DYS447) were identified when two father–son pairs were analyzed by multiplex amplification. “Null alleles” were observed at DYF387S1 and DYS447, and duplicated alleles were displayed at DYS533 and DYS19. We secondly amplified DYF387S1, DYS533, DYS447, and DYS19 loci by singleplex polymerase chain reaction (PCR) and sequence analysis of the long alleles at DYF387S1 and DYS447 loci. The results showed that alleles from DYF387S1 (allele 55) and DYS447 (allele 41) were longer than their common sizes in the allelic ladder ranges (33–42 for DYF387S1 and 18–30 for DYS447) and located in the neighboring loci (DYS533 and DYS19, respectively). Therefore, to identify these cases involving this unusual phenomenon, not only re-amplification using the same kit but also additional amplification (using alternative multiplex kits with different adjoining markers or additional singleplex PCR amplification) should be performed to avoid misinterpreting Y-STR profiles.

Confirmation of biological paternal lineage by using a panel of Y-chromosome str's in a parentage testing murder case: A case of allele mismatch in the child

Here we report a murder/paternity case with an incompatibility at locus D3S1358. Examination of 24 autosomal loci revealed no mismatches with a high paternity index. Since the questioned child was a male & the Y-chromosome is transmitted exclusively to the male lineage we studied a battery of 25 Y-STR's in the child & father. Since the battery of autosomal &Y chromosomal STR's employed confirmed the paternity & maternity, the observed incompatibility or mismatch could be due to a mutational event.

GENETIC POLYMORPHISM OF 23 Y-CHROMOSOME SHORT TANDEM REPEAT LOCI IN THE KINH POPULATION OF VIETNAM

Y-chromosome microsatellites or short tandem repeats (STRs) have been proved to be ideal markers to delineate the differences between individuals in human population. Nowadays, Y-STR testing using the PowerPlex® Y23 amplification kit is considered as an extremely sensitive analysis method and has the potential to be used to perform forensic caseworks, and to explore the complexity in population substructures. However, little is known about the forensic Y-chromosome databases in the Vietnam population. In this study, 23 Y-STR loci (DYS576, DYS389I, DYS389 II, DYS448, DYS19, DYS391, DYS481, DYS549, DYS533, DYS438, DYS437, DYS570, DYS635, DYS390, DYS439, DYS392, DYS393, DYS458 DYS456, DYS643, YGATAH4, and DYS385a/b) were investigated in 120 non-related males of the Kinh population in Northern Vietnam using PowerPlex® Y23 system kit (Promega). Our results showed that allele frequencies of 23 loci in the sample population, with the calculated average gene diversity (GD) for each locus, ranged from 0.24 (DYS438) to 0.92 (DYS385a/b). In addition, a total of 120 different haplotypes were found, all of them were unique. Therefore, we found that the haplotype diversity was 1 with a discrimination capacity of 100%, which serves as an essential prerequisite for using Y-chromosomal STR with PowerPlex® Y23 System kit in forensic application in Vietnam. We also compared genetic distances between Kinh population and 10 other neighboring populations from Y-chromosome haplotype reference database (YHRD). The Kinh population is significantly different from other populations. In conclusion, it was indicated that the 23 Y-STR loci were highly genetically polymorphic in the Kinh population in Vietnam and might be of great value in forensic application.