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Detection of deletion/insertion polymorphism profiles from single human hair shafts

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Abstract

Background

Hair is a frequently encountered biological evidence in personal identification. The amount of nuclear DNA that can be extracted from a single strand of rootless hair is most limited, making the detection of short tandem repeat (STR) polymorphisms difficult. To overcome these limitations, deletion/insertion polymorphisms (DIP) as a new type of genetic marker have shown their benefits in detecting low-copy-number DNA. The Investigator DIPplex kit contains 30 biallelic autosomal DIP and amelogenin. The analysis of DIPs combines the advantages of both STR and single nucleotide polymorphism analyses. Thus, this study aimed to detect the DIP distribution of individual hair shafts from individuals.

Methods and results

DNA was extracted from the shaft of fresh, aged, and shed hair. After DNA was evaluated, the DIP profiles were detected by capillary electrophoresis. The results indicated that the amount of DNA extracted from hair roots was much higher than that from the hair shafts in the same individual for all samples. The degradation index values of DNA from the aged hair shafts were highest. It is classified to be “mildly degraded.” Compared with their hair roots, the full DIP profiles were detected for fresh hair, 70% for aged hair, and 92% for shed hair. Contrarily, except for fresh hair shafts, only three STR loci of the aged and shed strands of hair could be genotyped using AmpFlSTR MiniFiler PCR Amplification Kit.

Conclusions

These results indicate that the detection of DIP profile is an effective tool for personal identification from hair shafts, including aged hair.

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Data availability

Data produced during this study are available from the corresponding author upon reasonable request. No specific materials were produced during this study.

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Acknowledgements

We would like to extend our thanks to Dr. Hirofumi Tsutsumi for his comments on the DNA evaluation of the samples.

Funding

This work was supported by Japan Society for the Promotion of Science KAKENHI, Great-in-Aid for Scientific Research (C) Number 21K10533.

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Authors and Affiliations

  1. Division of Legal Medicine, Department of Social Medicine, Nihon University School of Medicine, Tokyo, 1738610, Japan

    Jian Tie, Seisaku Uchigasaki, Eiji Isobe, Etsuko Iwakami & Takahisa Okuda

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  1. Jian Tie
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  2. Seisaku Uchigasaki
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  3. Eiji Isobe
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  4. Etsuko Iwakami
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  5. Takahisa Okuda
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Correspondence to Jian Tie.

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The authors declare no conflicts of interest.

Ethical approval

This study was approved by the ethical committee of the Nihon University in accordance with ethical guidelines. (Decision No: 239-0). All procedures performed in studies involving human participants were in accordance with the ethical standards of this Ethics Committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. Informed consent was obtained from all participants included in the study.

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Tie, J., Uchigasaki, S., Isobe, E. et al. Detection of deletion/insertion polymorphism profiles from single human hair shafts. Mol Biol Rep 49, 1017–1025 (2022). https://doi.org/10.1007/s11033-021-06921-w

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  • DOI: https://doi.org/10.1007/s11033-021-06921-w

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