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Analysis of four novel X-chromosomal short tandem repeats within 71 kb of the Xp22.3 region

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Abstract

DNA testing using X-chromosomal short tandem repeat (X-STR) polymorphisms has been used in maternity/paternity and complex kinship cases. Analyses of repeat sequences, surveys on racial statistics, and development of practical applications for DNA testing continue to be reported. In this study, we identified four novel tetranucleotide STR loci located in the X chromosome, which is the basis of X-STR research. These four tetranucleotide STRs were located within 71 kb of the chromosome Xp22.3 region. Using sequence analysis of the structure of repeat sequences, we identified simple repeat sequences of TAAA, CTTT, TATC, and GATA with rare insertions. We then calculated forensic statistical parameters using base length analysis. In the Japanese population, the polymorphism information content was 0.597–0.687, power of discrimination in females was 0.829–0.884, and power of discrimination in males was 0.635–0.729. As these tetranucleotide STRs are closely linked, we conducted haplotype analysis and detected that three loci (LC149476, LC149479, and LC149480) were in linkage disequilibrium. We demonstrated that the simultaneous analysis of these loci may be useful in complex kinship cases. Because these four loci can be detected by multiplex PCR, the detection of alleles at these loci can be rapidly and easily achieved. We conclude that the X-STR loci detected in this study may be useful tools in complex kinship cases and may increase the reliability of genetic testing.

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Acknowledgements

We thank the Division of Molecular Genetics, Core Research Facilities for Basic Science, Research Center for Medical Sciences, and The Jikei University School of Medicine for the DNA analysis. We thank the Crimson Interactive Pvt. Ltd. for their assistance in manuscript translation and editing. This work was supported by JSPS KAKENHI Grant Number JP15H06632.

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  1. Takeki Nishi

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

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

    Kenji Fukui & Kimiharu Iwadate

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  1. Takeki Nishi
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  2. Kenji Fukui
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Correspondence to Takeki Nishi.

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Nishi, T., Fukui, K. & Iwadate, K. Analysis of four novel X-chromosomal short tandem repeats within 71 kb of the Xp22.3 region. Int J Legal Med 131, 1229–1233 (2017). https://doi.org/10.1007/s00414-017-1553-2

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