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Assessing 23 Y-STR loci mutation rates in Chinese Han father–son pairs from southwestern China

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Abstract

In this study, we have analyzed 23 Y-chromosomal short tandem repeats (Y-STRs) (DYS576, DYS389I, DYS389II, DYS448, DYS19, DYS391, DYS481, DYS549, DYS533, DYS438, DYS437, DYS570, DYS635, DYS390, DYS439, DYS392, DYS643, DYS393, DYS458, DYS460, DYS385ab, DYS456 and Y-GATA-H4) in 175 father–son sample pairs using a Microreader™ 24Y Direct ID system. Sixteen repeat mutations of father–son pairs at 10 loci, including three mutations at DYS570, 2 mutations at DYS549, DYS460, DYS458, and DYS576, and 1 mutation at other five loci, were revealed. Furthermore, all of the observed repeat mutations were single repeat changes with 5 (31.25%) repeat insertions and 11 (68.75%) repeat deletions. The deletion rate is more than two fold higher than of insertions (11:5 = 2.2-fold). Locus-specific mutation rates estimated varied between 5.71 × 10−3 (CI from 0.1 × 10−3 to 31.4 × 10−3) and 1.71 × 10−2 (CI from 3.6 × 10−3 to 49.3 × 10−3) for the 23 Y-STRs. An average mutation rate across all 23 Y-STR markers was estimated as 3.97 × 10−3 (CI 2.3 × 10−3 to 6.4 × 10−3). Thus, locus-specific mutation rates in DYS460, DYS458, and DYS438, estimated are much higher than previously published comprehensive data, but an average mutation rate across all 23 Y-STR markers is similar to previous reports (3.97 × 10−3 vs 4.34 × 10−3). These results by characterizing Y-STR mutations will not only provided new information for Y-STR mutations but also might be important for paternal lineage identification, kinship analysis, and family relationship reconstruction in our forensic Y-STR analysis.

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Data availability

The original 175 sets of haplotype data did not list as a Supplementary materials due to the containing information that may compromise their privacy, and ensure that will available from the corresponding authors on reasonable request.

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Acknowledgements

This work was supported by the Translational Medicine Foundation of Southwest Medical University (Grant Nos. 00031476 and 00031477), the Joint Research Foundation of Luzhou City and Southwest Medical University (Grant No. 2018LZXNYD-YL01), and supported in part by the National Natural Science Foundation of China (Grant Nos. 30371493 and 81672887). We truly thank Shangyi (Shelly) Fu from Baylor College of Medicine for editing the manuscript.

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Correspondence to Junjiang Fu.

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Jiewen Fu and Jingliang Cheng contributed equally to this work.

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Fu, J., Cheng, J., Wei, C. et al. Assessing 23 Y-STR loci mutation rates in Chinese Han father–son pairs from southwestern China. Mol Biol Rep 47, 7755–7760 (2020). https://doi.org/10.1007/s11033-020-05851-3

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