Abstract
Two five-color fluorescence multiplex amplification systems of 13 Y chromosome short tandem repeat (Y-STR) loci (DYF387S1, DYF399S1, DYF403S1a/b, DYF404S1, DYS449, DYS518, DYS526a/b, DYS547, DYS570, DYS576, DYS612, DYS626, and DYS627) have been designed. A study was conducted measuring the mutation rates of the 13 Y-STRs in 501 father-son pairs of Han origin in Beijing, China. Among 7515 allele transmissions in 501 father-son pairs, 75 single-step and 2 two-step mutations were observed. Two father-son pairs had mutations at two different loci in 13 Y-STRs. The estimated mutation rates ranged from 2.00 × 10−3 (95% CI 1.00 × 10−4 to 1.11 × 10−2) for the DYF387S1, DYF403S1b, DYS526a, and DYS449 loci to 4.59 × 10−2 (95% CI 2.93 × 10−2 to 6.81 × 10−2) for the DYF399S1 locus. The average mutation rate is 1.02 × 10−2 (95% CI 8.10 × 10−3 to 1.28 × 10−2). Among these Y-STR markers, only DYF399S1, DYS627, DYF403S1a, DYS547, DYS612, and DYS626 had mutation rates higher than 1.00 × 10−2.
References
Parson W, Niederstätter H, Lindinger A, Gill P, ENFSI DNA Working Group (2008) Y-STR analysis on DNA mixture samples--results of a collaborative project of the ENFSI DNA Working Group. Forensic Sci Int Genet 2(3):238–242
Claerhout S, Vandenbosch M, Nivelle K, Gruyters L, Peeters A, Larmuseau MHD, Decorte R (2018) Determining Y-STR mutation rates in deep-routing genealogies: identification of haplogroup differences. Forensic Sci Int Genet 34:1–10
Wu W, Ren W, Hao H, Nan H, He X, Liu Q, Lu D (2018) Mutation rates at 42 Y chromosomal short tandem repeats in Chinese Han population in eastern China. Int J Legal Med 132:1317–1319. https://doi.org/10.1007/s00414-018-1784-x
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(3):341–353
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(2):208–218
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(2):533–8
Boattini A, Sarno S, Bini C, Pesci V, Barbieri C, De Fanti S, Quagliariello A, Pagani L, Ayub Q, Ferri G, Pettener D, Luiselli D, Pelotti S (2016) Mutation rates and discriminating power for 13 rapidly-mutating Y-STRs between related and unrelated individuals. PLoS One 11(11):e0165678. https://doi.org/10.1371/journal.pone.0165678 eCollection 2016
Kayser M, Kittler R, Erler A, Hedman M, Lee AC, Mohyuddin A, Mehdi SQ, Rosser Z, Stoneking M, Jobling MA, Sajantila A, Tyler-Smith C (2004) A comprehensive survey of human Y-chromosomal microsatellites. Am J Hum Genet 74(6):1183–1197
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
Untergasser A, Cutcutache I, Koressaar T, Ye J, Faircloth BC, Remm M, Rozen SG (2012) Primer3- new capabilities and interfaces. Nucleic Acids Res 40(15):e115
Gui J, Liu HB, Liao QX, Xu X, Lu D, Yuan L (2015) Establishment of a 15 loci multiplex amplification system and the genetic poly- morphism in Xinjiang Uygur population. Fa Yi Xue Za Zhi 31(1):23–27
Exact Binomial and Poisson Confidence Intervals: http://statpages.org/confint.html
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
Ohta T, Kimura M (2007) A model of mutation appropriate to estimate the number of electrophoretically detectable alleles in a finite population. Genet Res 89(5–6):367–370
Decker AE, Kline MC, Redman JW, Reid TM, Butler JM (2008) Analysis of mutations in father-son pairs with 17 Y-STR loci. Forensic Sci Int Genet 2(3):e31–e35
Ge J, Budowle B, Aranda XG, Planz JV, Eisenberg AJ, Chakraborty R (2009) Mutation rates at Y chromosome short tandem repeats in Texas populations. Forensic Sci Int Genet 3(3):179–184
Wang Y, Zhang YJ, Zhang CC, Li R, Yang Y, Ou XL, Tong DY, Sun HY (2016) Genetic polymorphisms and mutation rates of 27 Y-chromosomal STRs in a Han population from Guangdong Province, southern China. Forensic Sci Int Genet 21:5–9
Brinkmann B, Klintschar M, Neuhuber F, Hühne J, Rolf B (1998) Mutation rate in human microsatellites: influence of the structure and length of the tandem repeat. Am J Hum Genet 62(6):1408–1415
Acknowledgments
We are very grateful to Christophe Champod, Eldridge Heidi, and Chengtao Jiang for their valuable technical assistance.
Funding
This work was supported by opening research grants from Shanghai Key Laboratory of Forensic Medicine (Academy of Forensic Science, Ministry of Justice, PR. China) (No. KF1608) and China Scholarship Council.
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Conflict of interest
The authors declare that they have no conflict of interest.
Electronic supplementary material
ESM 1
(DOCX 881 kb)
Rights and permissions
About this article
Cite this article
Yuan, L., Chen, W., Zhao, D. et al. Mutation analysis of 13 RM Y-STR loci in Han population from Beijing of China. Int J Legal Med 133, 59–63 (2019). https://doi.org/10.1007/s00414-018-1949-7
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00414-018-1949-7