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Polymorphism and haplotype analysis of three novel short tandem repeat loci in the p11.4 region of human X chromosome

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Abstract

X-chromosomal short tandem repeats (X-STRs) are useful for the identification of absent single parents and complex blood relations. In the present study, we aimed to identify novel STR loci for use as DNA markers by conducting polymorphism and haplotype analyses. We detected three novel STR loci (LC552061, LC552062, and LC552063, with repetitive structures of (GGAA)n(GGGA)m, (CCTT)n(CCCT)m, and (ATTT)n, respectively) in the p11.4 region of the X chromosome. For these X-STRs, the polymorphism information content values ranged from 0.5766 to 0.6377 and the power of discrimination in males and females ranged from 0.6269 to 0.6844 and from 0.8105 to 0.8537, respectively. The linkage disequilibrium analysis revealed p values of < 0.0001, < 0.0001, and 0.00909 between LC552061 and LC552062, LC552061 and LC552063, and LC552062 and LC552063, respectively. Additional linkage disequilibrium analysis including seven previously analyzed loci (LC149476, LC149479, LC149480, LC149484, LC317283, LC317284, and LC317285) revealed a p value of < 0.001 among each of the five loci (LC149476, LC149479, LC149480, LC149484, and LC317283) and between LC317284 and LC317285, indicating that they were a linked group. These results indicate that, in addition to the seven previously detected loci, the three novel X-STR loci identified in the present study might be useful DNA markers for complex kinship analysis and might support the Investigator® Argus X-12 kit.

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Fig. 1

Data availability

Almost all data generated or analyzed during this study are included in this published article and its supplementary information files. The data are also available from the corresponding author on reasonable request.

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Acknowledgements

We would like to thank the Kyobun College of Tokyo Judo Therapy for their cooperation in recruiting volunteers. The authors would like to thank Enago (www.enago.jp) for the English language review.

Funding

The research leading to these results received funding from JSPS KAKENHI Grant Number JP15H06632.

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Authors and Affiliations

  1. Department of Forensic Medicine, The Jikei University School of Medicine, 3-25-8 Nishi-shinbashi, Minato-ku, Tokyo, 105-8461, Japan

    Takeki Nishi, Kenji Fukui, Sari Matumoto, Shojiro Takasu & Kimiharu Iwadate

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  1. Takeki Nishi
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  2. Kenji Fukui
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  3. Sari Matumoto
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Correspondence to Takeki Nishi.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. The study was approved by the Ethics Committee of the Jikei University School of Medicine (No. 27–089 [7974]).

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Nishi, T., Fukui, K., Matumoto, S. et al. Polymorphism and haplotype analysis of three novel short tandem repeat loci in the p11.4 region of human X chromosome. Int J Legal Med 136, 513–518 (2022). https://doi.org/10.1007/s00414-021-02739-0

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