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Rapidly mutating Y-STRs study in Chinese Yi population

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Abstract

Y-chromosomal short tandem repeats (Y-STRs) have been widely used in forensic analysis and population genetics. With low to moderate mutation rates, conventional Y-STR panels, including commercially available Y-STR kits, enable the identification of male pedigrees but typically fail to differentiate related male individuals. The introduction of rapidly mutating Y-chromosomal short tandem repeats (RM Y-STRs) with higher mutation rates (μ > 10−2) has been demonstrated to increase the discrimination capacity of unrelated men and the differentiation rate of related men compared with standard Y-STRs. To date, several studies have been performed worldwide. Here, 260 father–son pairs from Chinese Yi population were investigated, and 18.8% of them were differentiated with the 13 RM Y-STR markers, which was close to the theoretical estimate of 19.5% based on the mutation rates of these markers. Among the 57 mutations observed, repeat gains were more common than repeat losses (1.48:1), and one-step mutations were more common than two-step mutations (27.5:1). Locus-specific mutation rates ranged from < 3.85 × 10−3 (95% CI 0.00–1.41 × 10−2) to 3.85 × 10−2 (95% CI 1.86 × 10−2–6.96 × 10−2), with an average mutation rate of 1.46 × 10−2 (95% CI 1.11 × 10−2–1.89 × 10−2). Furthermore, we combined the father–son pair data from the present study with the data from the previous studies, generating an overall mutation rate of 1.70 × 10−2. The high differentiation rate obtained in the present study indicates the suitability of RM Y-STRs to distinguish paternal lineages in Chinese Yi population.

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References

  1. Roewer L, Arnemann J, Spurr NK, Grzeschik KH, Epplen JT (1992) Simple repeat sequences on the human Y-chromosome are equally polymorphic as their autosomal counterparts. Hum Genet 89:389–394

    Article  CAS  PubMed  Google Scholar 

  2. Jobling MA, Pandya A, Tyler-Smith C (1997) The Y chromosome in forensic analysis and paternity testing. Int J Legal Med 110:118–124

    Article  CAS  PubMed  Google Scholar 

  3. Corach D, Heidorn F, Honda K, Meuser S, Parson W, Prinz M et al (1997) Chromosome Y microsatellites: population genetic and evolutionary aspects. Int J Legal Med 110:134–140

    Article  PubMed  Google Scholar 

  4. Prinz M, Boll K, Baum H, Shaler B (1997) Multiplexing of Y chromosome specific STRs and performance for mixed samples. Forensic Sci Int 85:209–218

    Article  CAS  PubMed  Google Scholar 

  5. Ballantyne K, Kayser M (2012) Additional Y-STRs in forensics: why, which, and when. Forensic Sci Rev 24:63–78

    CAS  PubMed  Google Scholar 

  6. Calacal GC, Delfin FC, Tan MMM, Roewer L, Magtanong DL, Lara MC, Fortun RR, de Ungria MCA (2005) Identification of exhumed remains of fire tragedy victims using conventional methods and autosomal/Y-chromosomal short tandem repeat DNA profiling. Am J Forensic Med Pathol 26:285–291

    Article  PubMed  Google Scholar 

  7. Ballantyne KN, Goedbloed M, Fang R, Schaap O, Lao O, Wollstein A, Choi Y, van Duijn K, Vermeulen M, Brauer S, Decorte R, Poetsch M, von Wurmb-Schwark N, de Knijff P, Labuda D, Vézina H, Knoblauch H, Lessig R, Roewer L, Ploski R, Dobosz T, Henke L, Henke J, Furtado MR, Kayser M (2010) Mutability of Y-chromosomal microsatellites: rates, characteristics, molecular bases, and forensic implications. Am J Hum Genet 87:341–353

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  8. Ballantyne KN, Keerl V, Wollstein A, Choi Y, Zuniga SB, Ralf A, Vermeulen M, de Knijff P, Kayser M (2012) A new future of forensic Y-chromosome analysis: rapidly mutating Y-STRs for differentiating male relatives and paternal lineages. Forensic Sci Int Genet 6:208–218

    Article  CAS  PubMed  Google Scholar 

  9. Ballantyne KN, Ralf A, Aboukhalid R, Achakzai NM, Anjos MJ, Ayub Q, Balažic J, Ballantyne J, Ballard DJ, Berger B, Bobillo C, Bouabdellah M, Burri H, Capal T, Caratti S, Cárdenas J, Cartault F, Carvalho EF, Carvalho M, Cheng B, Coble MD, Comas D, Corach D, D’Amato ME, Davison S, de Knijff P, de Ungria MCA, Decorte R, Dobosz T, Dupuy BM, Elmrghni S, Gliwiński M, Gomes SC, Grol L, Haas C, Hanson E, Henke J, Henke L, Herrera-Rodríguez F, Hill CR, Holmlund G, Honda K, Immel UD, Inokuchi S, Jobling MA, Kaddura M, Kim JS, Kim SH, Kim W, King TE, Klausriegler E, Kling D, Kovačević L, Kovatsi L, Krajewski P, Kravchenko S, Larmuseau MHD, Lee EY, Lessig R, Livshits LA, Marjanović D, Minarik M, Mizuno N, Moreira H, Morling N, Mukherjee M, Munier P, Nagaraju J, Neuhuber F, Nie S, Nilasitsataporn P, Nishi T, Oh HH, Olofsson J, Onofri V, Palo JU, Pamjav H, Parson W, Petlach M, Phillips C, Ploski R, Prasad SPR, Primorac D, Purnomo GA, Purps J, Rangel-Villalobos H, Rębała K, Rerkamnuaychoke B, Gonzalez DR, Robino C, Roewer L, Rosa A, Sajantila A, Sala A, Salvador JM, Sanz P, Schmitt C, Sharma AK, Silva DA, Shin KJ, Sijen T, Sirker M, Siváková D, Škaro V, Solano-Matamoros C, Souto L, Stenzl V, Sudoyo H, Syndercombe-Court D, Tagliabracci A, Taylor D, Tillmar A, Tsybovsky IS, Tyler-Smith C, van der Gaag KJ, Vanek D, Völgyi A, Ward D, Willemse P, Yap EPH, Yong RYY, Pajnič IZ, Kayser M (2014) Toward male individualization with rapidly mutating y-chromosomal short tandem repeats. Hum Mutat 35:1021–1032

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  10. Turrina S, Caratti S, Ferrian M, De Leo D (2016) Are rapidly mutating Y-short tandem repeats useful to resolve a lineage? Expanding mutability data on distant male relationships. Transfusion 56:533–538

    Article  CAS  PubMed  Google Scholar 

  11. Lee EY, Lee HY, Kwon SY, Oh YN, Yang WI, Shin KJ (2017) A multiplex PCR system for 13 RM Y-STRs with separate amplification of two different repeat motif structures in DYF403S1a. Forensic Sci Int Genet 26:85–90

    Article  CAS  PubMed  Google Scholar 

  12. Zhang W, Xiao C, Yu J, Wei T, Liao F, Wei W, Huang D (2017) Multiplex assay development and mutation rate analysis for 13 RM Y-STRs in Chinese Han population. Int J Legal Med 131:345–350

    Article  PubMed  Google Scholar 

  13. Walsh PS, Metzger DA, Higuchi R (1991) Chelex 100 as a medium for simple extraction of DNA for PCR-based typing from forensic material. BioTechniques 10:506–513

    CAS  PubMed  Google Scholar 

  14. Niederstatter H, Berger B, Kayser M, Parson W (2016) Differences in urbanization degree and consequences on the diversity of conventional vs. rapidly mutating Y-STRs in five municipalities from a small region of the Tyrolean Alps in Austria. Forensic Sci Int Genet 24:180–193

    Article  CAS  PubMed  Google Scholar 

  15. Gusmao L, Butler JM, Carracedo A, Gill P, Kayser M, Mayr WR et al (2006) DNA Commission of the International Society of Forensic Genetics (ISFG): an update of the recommendations on the use of Y-STRs in forensic analysis. Forensic Sci Int 157:187–197

    Article  CAS  PubMed  Google Scholar 

  16. Zhang W, Xiao C, Wei T, Pan C, Yi S, Huang D (2016) Haplotype diversity of 13 RM Y-STRs in Chinese Han population and an update on the allele designation of DYF403S1. Forensic Sci Int Genet 23:e1–e9

    Article  CAS  PubMed  Google Scholar 

  17. Rogalla U, Wozniak M, Swobodzinski J, Derenko M, Malyarchuk BA, Dambueva I et al (2015) A novel multiplex assay amplifying 13 Y-STRs characterized by rapid and moderate mutation rate. Forensic Sci Int Genet 15:49–55

    Article  CAS  PubMed  Google Scholar 

  18. Robino C, Ralf A, Pasino S, De Marchi MR, Ballantyne KN, Barbaro A et al (2015) Development of an Italian RM Y-STR haplotype database: results of the 2013 GEFI collaborative exercise. Forensic Sci Int Genet 15:56–63

    Article  CAS  PubMed  Google Scholar 

  19. Alghafri R, Goodwin W, Ralf A, Kayser M, Hadi S (2015) A novel multiplex assay for simultaneously analysing 13 rapidly mutating Y-STRs. Forensic Sci Int Genet 17:91–98

    Article  CAS  PubMed  Google Scholar 

  20. Adnan A, Ralf A, Rakha A, Kousouri N, Kayser M (2016) Improving empirical evidence on differentiating closely related men with RM Y-STRs: a comprehensive pedigree study from Pakistan. Forensic Sci Int Genet 25:45–51

    Article  CAS  PubMed  Google Scholar 

  21. Ohta T, Kimura M (1973) A model of mutation appropriate to estimate the number of electrophoretically detectable alleles in a finite population. Genet Res 22:201–204

    Article  CAS  PubMed  Google Scholar 

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Acknowledgements

We would like to thank the Sichuan Forest Forensic Center for the sample support. This study was supported by grants from the National Natural Science Foundation of China (Nos. 81671871), Scientific Research Starting Foundation for Doctor of North Sichuan Medical College (CBY16-QD05), and Science and Technology Strategic Cooperation Project of Nanchong and North Sichuan Medical College (NSMC20170441).

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Correspondence to Weibo Liang or Lin Zhang.

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Wang, Q., Jin, B., An, G. et al. Rapidly mutating Y-STRs study in Chinese Yi population. Int J Legal Med 133, 45–50 (2019). https://doi.org/10.1007/s00414-018-1894-5

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