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. 2021 Jan;135(1):13-21.
doi: 10.1007/s00414-020-02288-y. Epub 2020 May 5.

DIP-microhaplotypes: new markers for detection of unbalanced DNA mixtures

Jinding Liu  1 , Ting Hao  1 , Xiaojuan Cheng  1 , Jiaqi Wang  1 , Wenyan Li  1 , Zidong Liu  1 , Jie Shi  1 , Zeqin Li  1 , Jianbo Ren  1 , Keming Yun  2 , Gengqian Zhang  3
Affiliations

DIP-microhaplotypes: new markers for detection of unbalanced DNA mixtures

Jinding Liu et al. Int J Legal Med. 2021 Jan.

Abstract

The identification of a suspect in a degraded and unbalanced DNA mixture has been a challenge for the standard short tandem repeat polymorphisms (STR) typing. Several methods have been introduced to solve this problem, such as DIP-STR, DIP-SNP, and SNP-STR markers. In this study, we proposed DIP-microhaplotype (deletion/insertion linked a chain of SNPs) as a kind of new genetic marker to type the unbalanced and degraded DNA mixture. We established the detection method with ten DIP-microhaplotype markers including 26 SNPs using allele-specific multiplex PCR followed by SNaPshot assay. This novel compound marker allows us to detect the minor DNA with a sensitivity of 1:100 to 1:1000 in a DNA mixture of any gender. Most of the DIP-microhaplotype markers had a relatively high probability of informative alleles with an average informative value (I value) of 0.308. In all, we proposed DIP-microhaplotype as a novel type of DNA marker for the detection of minor contributor from unbalanced DNA mixtures. Due to their inherent shorter length, higher polymorphism, and sensitivity, DIP-microhaplotypes are promising markers for the examination of the degraded and unbalanced mixtures in forensic stains or clinical chimeras.

Keywords: DIP-microhaplotypes; Degraded and unbalanced mixture; Forensic genetics; SNaPshot assay.

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References

    1. Qi Y, Wang N, Pang LJ, Zou H, Hu JM, Zhao J, Zhang J, Liu CX, Zhang WJ, Yuan XL, Li F (2015) Identification of potential mutations and genomic alterations in the epithelial and spindle cell components of biphasic synovial sarcomas using a human exome SNP chip. BMC Med Genet 8:69. https://doi.org/10.1186/s12920-015-0144-7 - DOI
    1. Druliner BR, Ruan X, Sicotte H, O'Brien D, Liu H, Kocher JA, Boardman L (2018) Early genetic aberrations in patients with sporadic colorectal cancer. Mol Carcinog 57:114–124. https://doi.org/10.1002/mc.22738 - DOI - PubMed
    1. Zhang S, Han S, Zhang M, Wang Y (2018) Non-invasive prenatal paternity testing using cell-free fetal DNA from maternal plasma: DNA isolation and genetic marker studies. Leg Med (Tokyo) 32:98–103. https://doi.org/10.1016/j.legalmed.2018.03.009 - DOI
    1. Fattorini P, Marrubini G, Bonin S, Bertoglio B, Grignani P, Recchia E, Pitacco P, Procopio F, Cantoni C, Pajnič IZ, Sorçaburu-Cigliero S, Previderè C (2018) Producing standard damaged DNA samples by heating: pitfalls and suggestions. Anal Biochem 549:107–112. https://doi.org/10.1016/j.ab.2018.03.011 - DOI - PubMed
    1. Maciejewska A, Jakubowska J, Pawlowski R (2013) Whole genome amplification of degraded and nondegraded DNA for forensic purposes. Int J Legal Med 127:309–319. https://doi.org/10.1007/s00414-012-0764-9 - DOI - PubMed

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