Application of Y-STR, DIP-STR and SNP-STR Markers in Interpretation of Forensic Genetic Profiling: A Narrative Review
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Abstract
Y-STR, DIP-STR, and SNP-STR are useful alternatives for testing the low quantity of DNA in solving the challenges in interpreting forensic genetic profiling. In an unbalanced mixed DNA, partial DNA is often not detected due to the effect of masking by the dominant DNA. Therefore, in such cases interpretation of the results is limited. Furthermore, profiling of these specimens cannot be performed using conventional forensic genetic methods. Biomarkers including Y-STR, DIP-STR and SNP-STR perform well in detecting DNA contributes in the mixed sample. In the present research, the performance of each is evaluated separately.
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28. Castella V, Gervaix J, Hall D (2013). DIP-STR: highly sensitive markers for the analysis of unbalanced genomic mixtures. Hum Mutat, 34(4): 644–54.
29. Dziennik A, Preis K, Świątkowska-Freund M, et al (2019).Genotyping of STR and DIP–STR Markers in Plasma Cell-Free DNA for Simple and Rapid Noninvasive Prenatal Diagnosis of Zygosity of Twin Pregnancies. Twin Res Hum Genet,22(5):321-329.
30. Liu J, Wang X, Zhang Z, et al (2017). A Mixture detection method based on sep-arate amplification using primer specific alleles of INDELs-a study based on two person’s DNA mixture. J Forensic Leg Med, 46: 30–36.
31. Liu Z, Liu J, Wang J, et al (2018). A set of 14 DIP-SNP markers to detect unbalanced DNA mixtures. Biochem Biophys Res Com-mun, 497(2):591-596.
32. Tan Y, Wang L, Wang H, et al (2017). An investigation of a set of DIP-STR mark-ers to detect unbalanced DNA mixtures among the southwest Chinese Han population. Forensic Sci Int Genet,31:34-39.
33. Oldoni F, Podini D (2019). Forensic mo-lecular biomarkers for mixture analysis. Forensic Sci Int Genet,41:107-119
34. Wei T, Liao F, Wang Y, et al (2018). A novel multiplex assay of SNP-STR markers for forensic purpose. PLoS One , 13(7):e0200700
35. Jian H, Wang L, Lv M, et al (2021). A Novel SNP-STR System Based on a Capillary Electrophoresis Platform. Front Genet, 12:636821.
36. Wang, Q, Yang Y, Cao Y, et al (2020). Con-struction of SNP-STR Multiplex Amplifi-cation System with Genetic Markers and Its Forensic Application. Fa yi xue za zhi, 36(3), 316-315.
37. Oldoni F, Castella V, Hall D (2015). A novel set of DIP-STR markers for improved analysis of challenging DNA mixtures. Forensic Sci Int Genet ,19: 156–164.
38. Wang L, Schneider PM, Rothschild MA, et al (2013). SNP–STR polymorphism: A sensitive compound marker for forensic genetic applications. Forensic Science Interna-tional Genetics Supplement Series, 4(1):e206-e207.
39. Wang L, He W, Mao J, et al (2015). Devel-opment of a SNP-STRs multiplex for fo-rensic identification. Forensic Science Interna-tional: Genetics Supplement Series,5: e598-e600.
2. Butler J M, Hill C R (2012). Biology and genet-ics of new autosomal STR loci useful for forensic DNA analysis. Forensic Sci Rev, 24(1):15-26.
3. Chantal JF, Kathy LB, Benoît L, et al (2003). AmpFlSTR profiler Plus short tandem repeat DNA analysis of casework sam-ples, mixture samples, and nonhuman DNA samples amplified under reduced PCR volume conditions (25 microL). J Forensic Sci, 48(5):1014-34.
4. National Forensic Science Technology Center, The Evaluation of Eight Commercially Available STR Kits, 2008 http://www.nfstc.org/?dl_id=27
5. Buckleton JS, Triggs CM, Walsh SJ. Forensic DNA Evidence Interpretation. CRC Press, 2004.
6. Green RL, Lagacé RE, Oldroyd NJ, et al (2013). Developmental validation of the AmpFlSTR(R) NGM SElect PCR ampli-fication kit: a next-generation STR multi-plex with the SE33 locus. Forensic Sci Int Genet, 7 (1) 41–51.
7. Tao R, Wang S, Zhang J, et al (2018). Separa-tion/extraction, detection, and interpreta-tion of DNA mixtures in forensic science (review). Int J Legal Med,132(5): 1247-1261.
8. Timken MD, Klein SB, Buoncristiani MR, (2018). Improving the efficacy of the standard DNA differential extraction method for sexual assault evidence. Foren-sic Sci Int Genet ,34: 170-177.
9. Sonja B Klein , Martin R Buoncristiani (2017). Evaluating the efficacy of DNA differen-tial extraction methods for sexual assault evidence. Forensic Sci Int Genet, 29: 109-117.
10. Van der Gaag KJ, de Leeuw RH, Hoogen-boom J, et al (2016). Massively parallel sequencing of short tandem repeats-Population data and mixture analysis re-sults for the PowerSeq™system. Forensic Sci Int Genet, 24: 86-96.
11. Kayser, M, (2017). Forensic use of Y-chromosome DNA: a general overview. Hum Genet, 136(5): 621-635.
12. Thompson JM, Ewing MM, Frank WE, et al (2013). evelopmental validation of the PowerPlex(R) Y23 System: a single multi-plex Y-STR analysis system for casework and database samples. Forensic Sci Int Genet. 7 (2) 240–50.
13. Vermeulen M, Wollstein A, van der Gaag K, et al (2009). Improving global and re-gional resolution of male lineage differen-tiation by simple single-copy Y-chromosomal short tandem repeat pol-ymorphisms. Forensic Sci Int Genet, 3(4) 205–13.
14. Purps J, Geppert M, Nagy M, et al (2015). Validation of a combined autosomal/Y-chromosomal STR approach for analyz-ing typical biological stains in sexual-assault cases. Forensic Sci Int Genet, (19) 238–242.
15. Coble MD, Loreille OM, Wadhams MJ, et al (2009). Mystery solved: the identification of the two missing Romanov children using DNA analysis. PLoS One, 4 (3) e4838.
16. Alghafri R, Goodwin W, Ralf A, et al (2015). A novel multiplex assay for simultaneous-ly analysing 13 rapidly mutating Y-STRs. Forensic Sci Int Genet, (17) 91–98.
17. Ballantyne KN, Keerl V, Wollstein A, et al (2012).A new future of forensic Y-chromosome analysis: rapidly mutating Y-STRs for differentiating male relatives and paternal lineages. Forensic Sci Int Genet, 6 (2) 208–18.
18. Hall D, Castella V (2011). DIP–STR: A new marker for resolving unbalanced DNA mixtures. Forensic Science International: Genet-ics Supplement Series, 3(1):e1-e2.
19. Senge T, Madea B, Junge A, et al (2011). STRs, mini STRs and SNPs–a compara-tive study for typing degraded DNA. Leg Med (Tokyo), 13(2): 68-74.
20. Freire-Aradas A, Fondevila M, Kriegel AK, et al (2012). A new SNP assay for identi-fication of highly degraded human DNA. Forensic Sci Int Genet, (6) 341–9.
21. Brown H, Thompson R, Murphy G, et al (2017). Development and validation of a novel multiplexed DNA analysis sys-tem,InnoTyper® 21. Forensic Sci Int Genet, 29:80-99.
22. Tan Y, Bai P, Wang L, et al (2018). Two-person DNA mixture interpretation based on a novel set of SNP-STR mark-ers.Forensic Sci Int Genet, 37: 37-45.
23. LaRue B L , Ge J , King J L , Budowle B (2012). A validation study of the Qiagen Investigator DIPplex®kit; an INDEL-based assay for human identification.Int J Legal Med, (126) 533–40.
24. Phillips C, Fondevila M, García-Magariños M, et al (2008). Resolving relationship tests that show ambiguous STR results using autosomal SNPs as supplementary markers. Forensic Sci Int Genet, 2(3):198-204.
25. Schneider PM (2012).Beyond STRs: The Role of Diallelic Markers in Forensic Ge-netics. Transfus Med Hemother, 39176–180.
26. Oldoni F, Castella V, Hall D (2017). Application of DIP-STRs to sexu-al/physical assault investigations: Eight case reports. Forensic Sci Int Genet,30:106-113.
27. Moriot A, Hall D (2019). Analysis of fetal DNA in maternal plasma with markers designed for forensic DNA mixture resolution. Genet Med,21(3):613-621.
28. Castella V, Gervaix J, Hall D (2013). DIP-STR: highly sensitive markers for the analysis of unbalanced genomic mixtures. Hum Mutat, 34(4): 644–54.
29. Dziennik A, Preis K, Świątkowska-Freund M, et al (2019).Genotyping of STR and DIP–STR Markers in Plasma Cell-Free DNA for Simple and Rapid Noninvasive Prenatal Diagnosis of Zygosity of Twin Pregnancies. Twin Res Hum Genet,22(5):321-329.
30. Liu J, Wang X, Zhang Z, et al (2017). A Mixture detection method based on sep-arate amplification using primer specific alleles of INDELs-a study based on two person’s DNA mixture. J Forensic Leg Med, 46: 30–36.
31. Liu Z, Liu J, Wang J, et al (2018). A set of 14 DIP-SNP markers to detect unbalanced DNA mixtures. Biochem Biophys Res Com-mun, 497(2):591-596.
32. Tan Y, Wang L, Wang H, et al (2017). An investigation of a set of DIP-STR mark-ers to detect unbalanced DNA mixtures among the southwest Chinese Han population. Forensic Sci Int Genet,31:34-39.
33. Oldoni F, Podini D (2019). Forensic mo-lecular biomarkers for mixture analysis. Forensic Sci Int Genet,41:107-119
34. Wei T, Liao F, Wang Y, et al (2018). A novel multiplex assay of SNP-STR markers for forensic purpose. PLoS One , 13(7):e0200700
35. Jian H, Wang L, Lv M, et al (2021). A Novel SNP-STR System Based on a Capillary Electrophoresis Platform. Front Genet, 12:636821.
36. Wang, Q, Yang Y, Cao Y, et al (2020). Con-struction of SNP-STR Multiplex Amplifi-cation System with Genetic Markers and Its Forensic Application. Fa yi xue za zhi, 36(3), 316-315.
37. Oldoni F, Castella V, Hall D (2015). A novel set of DIP-STR markers for improved analysis of challenging DNA mixtures. Forensic Sci Int Genet ,19: 156–164.
38. Wang L, Schneider PM, Rothschild MA, et al (2013). SNP–STR polymorphism: A sensitive compound marker for forensic genetic applications. Forensic Science Interna-tional Genetics Supplement Series, 4(1):e206-e207.
39. Wang L, He W, Mao J, et al (2015). Devel-opment of a SNP-STRs multiplex for fo-rensic identification. Forensic Science Interna-tional: Genetics Supplement Series,5: e598-e600.
| Files | ||
| Issue | Vol 51 No 7 (2022) | |
| Section | Review Article(s) | |
| DOI | https://doi.org/10.18502/ijph.v51i7.10087 | |
| Keywords | ||
| Unbalanced mixed DNA Forensic genetic Marker Genetics | ||
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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
How to Cite
1.
Forozesh M, Irani S, Soleimani A, Monabati SJ. Application of Y-STR, DIP-STR and SNP-STR Markers in Interpretation of Forensic Genetic Profiling: A Narrative Review. Iran J Public Health. 2022;51(7):1538-1545.
