Mutability analysis towards 21 STR loci included in the AGCU 21 + 1 kit in Chinese Han population
To further illustrate the mutation traits of 21 autosomal STR loci involved in the newly developed AGCU 21 + 1 kit, randomly selected 485 trios were focused on. We have previously confirmed the biological father-mother-child relationships of these trios. Then matters of mutation rates, steps, and origins of the 21 STR loci were statically analyzed. Results showed 35 mutation events occurred at 16 STR loci of the panel during 20,370 meiosis, and the locus-specific mutation rates ranged from 0.000 to 1.134% (D3S4529), with an overall mutation rate of 1.72 × 10−3 (95%CI, 1.20–2.39 × 10−3). Mutation origins exhibited slight discrepancy between male and female germlines, 18 of the 35 mutation events were verified to be contributed by fathers and 13 by mothers, with origins of the remaining 4 events hardly to be assigned. Furthermore, 77.14% of the mutations were one-step mutation. Currently, portraits on mutability of the STR loci involved in the AGCU 21 + 1 panel were barely reported. In view of this, we conclude our data will enrich the mutation information of the 21 STR loci and provide valuable suggestions in calculating likelihood ratios for mutation-involved parental testing cases.
KeywordsMutation rate Short tandem repeats AGCU 21 + 1 Han population
This project was supported by the National Natural Science Foundation of China (NSFC, No. 81525015), GDUPS (2017).
- 1.Mullikin JC, Hunt SE, Cole CG, Mortimore BJ, Rice CM, Burton J, Matthews LH, Pavitt R, Plumb RW, Sims SK, Ainscough RM, Attwood J, Bailey JM, Barlow K, Bruskiewich RM, Butcher PN, Carter NP, Chen Y, Clee CM, Coggill PC, Davies J, Davies RM, Dawson E, Francis MD, Joy AA, Lamble RG, Langford CF, Macarthy J, Mall V, Moreland A, Overton-Larty EK, Ross MT, Smith LC, Steward CA, Sulston JE, Tinsley EJ, Turney KJ, Willey DL, Wilson GD, McMurray AA, Dunham I, Rogers J, Bentley DR (2000) An SNP map of human chromosome 22. Nature 407(6803):516–520. https://doi.org/10.1038/35035089 CrossRefPubMedGoogle Scholar
- 4.Vilches C, Parham P (2002) KIR: diverse, rapidly evolving receptors of innate and adaptive immunity. Annu Rev Immunol 20:217–251. https://doi.org/10.1146/annurev.immunol.20.092501.134942 CrossRefPubMedGoogle Scholar
- 7.Dauber E-M, Kratzer A, Neuhuber F, Parson W, Klintschar M, Bär W, Mayr WR (2012) Germline mutations of STR-alleles include multi-step mutations as defined by sequencing of repeat and flanking regions. Forensic Sci Int Genet 6(3):381–386. https://doi.org/10.1016/j.fsigen.2011.07.015 CrossRefPubMedGoogle Scholar
- 10.Vieira TC, Duarte Gigonzac MA, Goulart Rodovalho R, Morais Cavalcanti L, Bernardes Minasi L, Melo Rodrigues F, da Cruz AD (2017) Mutation rates in 21 autosomal short tandem repeat loci in a population from Goias, Brazil. Electrophoresis 38(21):2791–2794. https://doi.org/10.1002/elps.201700192 CrossRefPubMedGoogle Scholar
- 11.Jin B, Su Q, Luo H, Li Y, Wu J, Yan J, Hou Y, Liang W, Zhang L (2016) Mutational analysis of 33 autosomal short tandem repeat (STR) loci in southwest Chinese Han population based on trio parentage testing. Forensic Sci Int Genet 23:86–90. https://doi.org/10.1016/j.fsigen.2016.03.009 CrossRefPubMedGoogle Scholar
- 13.Zhang YD, Tang XL, Meng HT, Wang HD, Jin R, Yang CH, Yan JW, Yang G, Liu WJ, Shen CM, Zhu BF (2015) Genetic variability and phylogenetic analysis of Han population from Guanzhong region of China based on 21 non-CODIS STR loci. Sci Rep 5:8872. https://doi.org/10.1038/srep08872 CrossRefPubMedPubMedCentralGoogle Scholar
- 14.Wang HD, Liao SX, Shen CM, Liu WJ, Yuan GL, Zhang YD, Yang G, Yan JW, Qin HX, Xie T (2013) Allelic diversity distributions of 21 new autosomal short tandem repeat loci in Chinese Ningxia Han population. Forensic Sci Int Genet 7(3):e78–e79. https://doi.org/10.1016/j.fsigen.2012.11.012 CrossRefPubMedGoogle Scholar
- 20.Wang HD, Shen CM, Liu WJ, Zhang YD, Yang G, Yan JW, Qin HX, Zhu BF (2013) Allelic frequency distributions of 21 non-combined DNA index system STR loci in a Russian ethnic minority group from Inner Mongolia, China. J Zhejiang Univ Sci B 14(6):533–540. https://doi.org/10.1631/jzus.B1200262 CrossRefPubMedPubMedCentralGoogle Scholar
- 21.Yuan JY, Wang XY, Shen CM, Liu WJ, Yan JW, Wang HD, Pu HW, Wang YL, Yang G, Zhang YD, Meng HT, Jing H, Zhu BF (2014) Genetic profile characterization and population study of 21 autosomal STR in Chinese Kazak ethnic minority group. Electrophoresis 35(4):503–510. https://doi.org/10.1002/elps.201300398 CrossRefPubMedGoogle Scholar
- 22.Walsh PS, Metzger DA, Higushi R (2013) Chelex 100 as a medium for simple extraction of DNA for PCR-based typing from forensic material. BioTechniques 10(4): 506–13 (April 1991). Biotechniques 54 (3):134–139Google Scholar
- 26.Ying D, Nan X, Weijian Y, Mei C (2015) Application of 21 non-CODIS STR loci in duos parentage analysis. CHIN J FORENSIC MED 30(6):604–606Google Scholar