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      Population genetic analysis of 36 Y-chromosomal STRs yields comprehensive insights into the forensic features and phylogenetic relationship of Chinese Tai-Kadai-speaking Bouyei

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          Abstract

          Male-specifically inherited Y-STRs, harboring the features of haploidy and lack of crossing over, have gained considerable attention in population genetics and forensic investigations. Goldeneye® Y-PLUS kit was a recently developed amplification system focused on the genetic diversity of 36 Y-chromosomal short tandem repeats (Y-STRs) in East Asians. However, no population data and corresponding forensic features were reported in China. Here, 36 Y-STRs were first genotyped in 400 unrelated healthy Tai-Kadai-speaking Bouyei male individuals. A total of 371 alleles and 396 haplotypes could be detected, and the allelic frequencies ranged from 0.0025 to 0.9875. The haplotype diversity, random match probability and discrimination capacity values were 0.9999, 0.0026 and 0.9900, respectively. The gene diversity (GD) of 36 Y-STR loci in the studied group ranged from 0.0248 (DYS645) to 0.9601 (DYS385a/b). Population comparisons between the Guizhou Bouyei and 80 reference groups were performed via the AMOVA, MDS, and phylogenetic relationship reconstruction. The results showed that the population stratification was almost consistent with the geographic distribution and language-family, both among Chinese and worldwide ethnic groups. Our newly genotyped Bouyei samples show a close affinity with other Tai-Kadai-speaking groups in China and Southeast Asia. Our data may provide useful information for paternal lineage in the forensic application and population genetics, as well as evidence for archaeological and historical research.

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          Encoded evidence: DNA in forensic analysis.

          Sherlock Holmes said "it has long been an axiom of mine that the little things are infinitely the most important", but never imagined that such a little thing, the DNA molecule, could become perhaps the most powerful single tool in the multifaceted fight against crime. Twenty years after the development of DNA fingerprinting, forensic DNA analysis is key to the conviction or exoneration of suspects and the identification of victims of crimes, accidents and disasters, driving the development of innovative methods in molecular genetics, statistics and the use of massive intelligence databases.
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            Forensic use of Y-chromosome DNA: a general overview

            The male-specific part of the human Y chromosome is widely used in forensic DNA analysis, particularly in cases where standard autosomal DNA profiling is not informative. A Y-chromosomal gene fragment is applied for inferring the biological sex of a crime scene trace donor. Haplotypes composed of Y-chromosomal short tandem repeat polymorphisms (Y-STRs) are used to characterise paternal lineages of unknown male trace donors, especially suitable when males and females have contributed to the same trace, such as in sexual assault cases. Y-STR haplotyping applied in crime scene investigation can (i) exclude male suspects from involvement in crime, (ii) identify the paternal lineage of male perpetrators, (iii) highlight multiple male contributors to a trace, and (iv) provide investigative leads for finding unknown male perpetrators. Y-STR haplotype analysis is employed in paternity disputes of male offspring and other types of paternal kinship testing, including historical cases, as well as in special cases of missing person and disaster victim identification involving men. Y-chromosome polymorphisms are applied for inferring the paternal bio-geographic ancestry of unknown trace donors or missing persons, in cases where autosomal DNA profiling is uninformative. In this overview, all different forensic applications of Y-chromosome DNA are described. To illustrate the necessity of forensic Y-chromosome analysis, the investigation of a prominent murder case is described, which initiated two changes in national forensic DNA legislation both covering Y-chromosome use, and was finally solved via an innovative Y-STR dragnet involving thousands of volunteers after 14 years. Finally, expectations for the future of forensic Y-chromosome DNA analysis are discussed.
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              A new future of forensic Y-chromosome analysis: rapidly mutating Y-STRs for differentiating male relatives and paternal lineages.

              The panels of 9-17 Y-chromosomal short tandem repeats (Y-STRs) currently used in forensic genetics have adequate resolution of different paternal lineages in many human populations, but have lower abilities to separate paternal lineages in populations expressing low Y-chromosome diversity. Moreover, current Y-STR sets usually fail to differentiate between related males who belong to the same paternal lineage and, as a consequence, conclusions cannot be drawn on the individual level as is desirable for forensic interpretations. Recently, we identified a new panel of rapidly mutating (RM) Y-STRs, composed of 13 markers with mutation rates above 1 × 10(-2), whereas most Y-STRs, including all currently used in forensics, have mutation rates in the order of 1 × 10(-3) or lower. In the present study, we demonstrate in 604 unrelated males sampled from 51 worldwide populations (HGDP-CEPH) that the RM Y-STRs provide substantially higher haplotype diversity and haplotype discrimination capacity (with only 3 haplotypes shared between 8 of the 604 worldwide males), than obtained with the largest set of 17 currently used Y-STRs (Yfiler) in the same samples (33 haplotypes shared between 85 males). Hence, RM Y-STRs yield high-resolution paternal lineage differentiation and provide a considerable improvement compared to Yfiler. We also find in this worldwide dataset substantially less genetic population substructure within and between geographic regions with RM Y-STRs than with Yfiler Y-STRs. Furthermore, with the present study we provide enhanced data evidence that the RM Y-STR panel is extremely successful in differentiating between closely and distantly related males. Among 305 male relatives, paternally connected by 1-20 meiotic transfers in 127 independent pedigrees, we show that 66% were separated by mutation events with the RM Y-STR panel whereas only 15% were with Yfiler; hence, RM Y-STRs provide a statistically significant 4.4-fold increase of average male relative differentiation relative to Yfiler. The RM Y-STR panel is powerful enough to separate closely related males; nearly 50% of the father and sons, and 60% of brothers could be distinguished with RM Y-STRs, whereas only 7.7% and 8%, respectively, with Yfiler. Thus, by introducing RM Y-STRs to the forensic genetic community we provide important solutions to several of the current limitations of Y chromosome analysis in forensic genetics. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.
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                Author and article information

                Contributors
                Role: ConceptualizationRole: Writing – original draft
                Role: Data curationRole: InvestigationRole: Methodology
                Role: Data curationRole: Software
                Role: Formal analysisRole: Resources
                Role: Formal analysisRole: Funding acquisitionRole: Validation
                Role: Supervision
                Role: Formal analysisRole: Software
                Role: Formal analysisRole: Software
                Role: Formal analysisRole: Software
                Role: Formal analysisRole: Software
                Role: Funding acquisitionRole: SupervisionRole: Writing – review & editing
                Role: Project administration
                Role: MethodologyRole: Project administration
                Role: ConceptualizationRole: Funding acquisitionRole: SupervisionRole: Writing – review & editing
                Role: Editor
                Journal
                PLoS One
                PLoS ONE
                plos
                plosone
                PLoS ONE
                Public Library of Science (San Francisco, CA USA )
                1932-6203
                8 November 2019
                2019
                : 14
                : 11
                : e0224601
                Affiliations
                [1 ] Department of Forensic Medicine, Guizhou Medical University, Guiyang, Guizhou, China
                [2 ] Guiyang Judicial Expertise Center of Public Security, Guiyang, Guizhou, China
                National Cheng Kung University, TAIWAN
                Author notes

                Competing Interests: The authors have declared that no competing interests exist.

                Author information
                http://orcid.org/0000-0002-6821-3665
                Article
                PONE-D-19-14690
                10.1371/journal.pone.0224601
                6839857
                31703068
                2ff497a4-0978-4dba-86bd-d7b8a07689a4
                © 2019 Luo et al

                This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

                History
                : 24 May 2019
                : 17 October 2019
                Page count
                Figures: 3, Tables: 0, Pages: 11
                Funding
                Funded by: National Natural Science Foundation of China
                Award ID: 81601650
                Award Recipient :
                Funded by: Guizhou Province Engineering Technology Research Center Project
                Award ID: Qian High-Tech of Development and Reform Commission NO. [2016]1345
                Award Recipient :
                Funded by: Guizhou Province Scientific and Technical Foundation
                Award ID: Qian Science LH NO. [2016]7360
                Award Recipient :
                Funded by: Guizhou Scientific Support Project
                Award ID: Qian Science Support [2019] 2825
                Award Recipient :
                Funded by: Guizhou Education Department Young Scientific and Technical Talents Project
                Award ID: Qian Education KY NO. [2018]199
                Funded by: Guiyang Scientific and Technical Foundation
                Award ID: Guiyang Science NO. [2017] 5-13
                Funded by: Guizhou Province Scientific and Technical Project
                Award ID: Qian Science SY NO.[2013]3109
                Award Recipient :
                This research was funded by the National Natural Science Foundation of China, 81601650 to ZR; Guizhou Province Engineering Technology Research Center Project, Qian High-Tech of Development and Reform Commission NO. [2016]1345 to JH; Guizhou Province Scientific and Technical Foundation, Qian Science LH NO. [2016]7360 to OW; Guizhou Scientific Support Project, Qian Science Support [2019] 2825 to JH; Guizhou Education Department Young Scientific and Technical Talents Project, Qian Education KY NO. [2018]199; Guiyang Scientific and Technical Foundation, Guiyang Science NO. [2017] 5-13; and Guizhou Province Scientific and Technical Project, Qian Science SY NO.[2013]3109 to YZ. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.
                Categories
                Research Article
                Biology and Life Sciences
                Evolutionary Biology
                Population Genetics
                Biology and Life Sciences
                Genetics
                Population Genetics
                Biology and Life Sciences
                Population Biology
                Population Genetics
                Biology and Life Sciences
                Biogeography
                Phylogeography
                Ecology and Environmental Sciences
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                Population Genetics
                Phylogeography
                Biology and Life Sciences
                Population Biology
                Population Genetics
                Phylogeography
                Biology and Life Sciences
                Genetics
                Heredity
                Genetic Mapping
                Haplotypes
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                Han Chinese people
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