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Substitution mutation induced migration anomaly of a D10S2325 allele on capillary electrophoresis

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Abstract

Microvariants of short tandem repeat (STR) have been reported for different commercially available multiplex STR systems. Sequence length variations caused by variant mechanisms were the central cause of these abnormal phenomena. Here, we reported a novel electrophoretic mobility of the variant allele 13 of D10S2325 in the Investigator HDplexTM Kit, which was induced by a special sequence structure containing a poly-G tract (ttg ggg ggg) as a result of only one single base substitution in the flanking regions of the core repeat structure. This migration anomaly can pose a potential risk of wrong designation of some off-ladder alleles in STR loci. Furthermore, population genetic data of the Investigator HDplexTM Kit in the Chinese Han population are also reported.

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Fig. 1
Fig. 2

Abbreviations

STR:

Short tandem repeat

OL:

Off-ladder

CODIS:

Combined DNA Index System

ESS:

European Standard Set

CE:

Capillary electrophoresis

POP-4:

Performance optimized polymer 4

ISFG:

International Society of Forensic Genetics

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Acknowledgements

This work was supported by the Twelfth Five-Year Plan of the National Science and Technology Support Program of China (no. 2012BAK16B01) and by the National Natural Science Foundation of China (no. 81072510 and no. 81273349). The Investigator HDplex STR kits used for this study were kindly provided by Qiagen.

Conflict of interest

The authors have declared no conflict of interest.

Ethical standards

The authors declared that the experiments comply with the current laws of China.

Author information

Authors and Affiliations

  1. Department of Forensic Genetics, West China School of Basic Science and Forensic Medicine, Sichuan University (West China University of Medical Sciences), Chengdu, 610041, Sichuan, People’s Republic of China

    Peng-Yu Chen, Ji Zhang, Hai-Bo Luo & Yi-Ping Hou

  2. Institute of Legal Medicine, Faculty of Medicine, University of Cologne, Melatengürtel 60-62, 50823, Cologne, Germany

    Peter M. Schneider

Authors
  1. Peng-Yu Chen
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  2. Ji Zhang
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  3. Hai-Bo Luo
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  4. Peter M. Schneider
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  5. Yi-Ping Hou
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Corresponding authors

Correspondence to Peter M. Schneider or Yi-Ping Hou.

Additional information

Ji Zhang contributed equally to this work and should be considered co-first author.

Electronic supplementary material

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Supplementary Figure 1

(see ESM_1) CE results of alleles 13 at locus D10S2325 detected on 3130 with POP-7 polymer. Each electropherogram is indicated with the sample name followed by corresponding base substitutions of allele 13. The mixture of sample X114 (A/G8, ttg ggg ggg acg gg) and Y58 (A/G10, ttg ggg gag gcg gg) showed a split peak with 0.54 base size difference. The arrow shows that the variant allele 13 with A/G8 was detected as an OL allele. These results indicate that the migration anomaly cannot be eliminated by using 3130 CE instrument with different separating gel. (JPEG 43 kb)

High resolution image (TIFF 2643 kb)

Supplementary Table 1

Allele distribution and forensic parameters from the Chinese Han population of 12 loci combined in the Investigator HDplex kit (n = 273) (DOCX 25 kb)

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Chen, PY., Zhang, J., Luo, HB. et al. Substitution mutation induced migration anomaly of a D10S2325 allele on capillary electrophoresis. Int J Legal Med 127, 363–368 (2013). https://doi.org/10.1007/s00414-012-0779-2

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  • DOI: https://doi.org/10.1007/s00414-012-0779-2

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