The Reference Materials System of Forensic Science STR Typing
MO Xiao-ting1,2,3,MA Wen-hua1,2,3,ZHANG Jian1,2,3,ZHAO Xing-chun1,2,3
1. Institute of Forensic Science, Ministry of Public Security, Beijing 100038,China
2. Key Laboratory of Forensic Genetics, Institute of Forensic Science, Ministry of Public Security, Beijing 100038, China
3. National Engineering Laboratory for Forensic Science, Beijing 100038, China
摘要在法庭科学领域推进相关有证标准物质的研制和应用,对建设DNA分析的标准化体系具有重要意义。当前不断涌现新的DNA检验方法,并迅速应用于刑事案件调查,现行方法的有效性和准确性需要标准物质开展认证与验证。DNA STR(short tandem repeat)分型检验是当前法庭科学进行个体身份识别和亲缘关系判断的主要依据,有证DNA标准物质是实现不同实验室间信息资源共享,保障STR分型结果准确可比的标尺。概述了STR检验技术及其过程中使用的国内外标准品和标准物质,并对我国构建STR检验的标准物质体系提出了建议和展望。
Abstract:Strengthening the development and application of related certified reference material is of great significance for the establishment of the standard system for DNA analysis in forensic science. At present, new methods for STR typing are constantly emerging and rapidly applied to help in criminal case investigations. The validity and accuracy of existing methods are being challenged. DNA STR typing test is the main basis for individual identification and genetic identification in forensic science now, and the applicable DNA certified reference materials are the standards, enabling the realization of source sharing, as well as accuracy and comparison of DNA STR typing among laboratories. Here, STR typing technology, the standard substances and reference material used in the STR typing process are summarized, and suggestions and prospects for the construction of the standard material system for STR typing in the forensic science are put forward.
Barker P E, Michael S, Watson J R, et al. NIST Physical Standards for DNA-Based Medical Testing[J]. Journal of Clinical Laboratory Analysis, 2002, 16:5-10.
Laurin N, De Moors A, Fregeau C. Performance of Identifiler Direct and PowerPlex 16 HS on the Applied Biosystems 3730 DNA Analyzer for processing biological samples archived on FTA cards[J]. Forensic Sci Int Genet, 2012, 6(6): 21-9.
[8]
FBI. QAS for Forensic and Databasing Laboratories and accompanying audit documents[EB/OL]. http://www.fbi.gov/about-us/lab/biometric-analysis/codis (accessed 04.05.15).
[12]
Szibor R, Edelmann J, Hering S, et al. Cell line DNA typing in forensic genetics-the necessity of reliable stand-ards[J]. Forensic Sci Int, 2003, 138:37-43.
[15]
Karger B L, Guttman A. DNA sequencing by CE[J]. Electrophoresis, 2009, (Suppl 1):196-202.
[17]
Boavida A, Bogas V, Sampaio L, et al. PowerPlex fusion 6C system: internal validation study[J]. Forensic Sci Res, 2018, 3(2):130-137.
[18]
Martínez G, Borosky A, Corach D, et al Investigator HD plex (Qiagen) reference population database for forensic use in Argentina[J]. Forensic Sci Int Genet, 2017, 26:91-95.
[22]
Duewer D L, Richie K L, Reeder D J. RFLP band size standards: NIST standard reference material 2390[J]. Forensic Sci, 2000,45:1093-1105.
SWGDAM. Short tandem repeat (STR) interpretation guidelines[Z]. NCJ Number:218822, 2020.
[1]
Butler J M. Short tandem repeat typing technologies used in human identity testing[J]. Supplement to BioTechniques, 2007, 43 (4): 2-5.
Xu Y, Tong Q L, Huang H J, et al. Status and Trends of Domestic and Oversea Markets of Reference Materials[J]. Chemical Reagent, 2021, 43(12), 1657-1667.
[6]
Oostdik K, French J, Yet D, et al. Developmental validation of the PowerPlex 18D System, a rapid STR multiplex for analysis of reference samples[J]. Forensic Sci Int Genet, 2013, 7(1): 29-35.
[10]
Butler J M, Buel E, Crivellente F et al. Forensic DNA typing by capillary electrophoresis: using the ABI Prism 310 and 3100 Genetic Analyzers for STR analysis[J]. Electrophoresis 2004,25(10/11):1397-1412.
[13]
Dupuy B M, Olaisen B. A dedicated internal standard in fragment length analysis of hyperpolymorphic short tandem repeats[J]. Forensic Sci Int, 1997, 86(3): 207-227.
[14]
Natarajan C R, Vijayan N N, Linda K V, et al. Universal protocol for generating 100bp size standard for endless usage[J]. Electronic Journal of Biotechnology, 2008, 11(2):126-129.
[16]
Cloete K W, Ristow P G, Kasu M, et al. Design, installation, and performance evaluation of a custom dye matrix standard for automated capillary electrophoresis[J]. Electrophoresis, 2017, 38(5):617-623.
[20]
SF/Z JD0105009—2018 法医物证鉴定标准品DNA使用与管理规范[S].
[23]
Steffen C R, Kline M C,Duewer D L, et al. Establishing traceability to NIST SRM 2391c: PCR-Based DNA Profiling Standard[J]. Forensic Sci Int Gene Suppl,2015, 5:112-113.
[24]
Levin B C, Cheng H, Reeder D J, et al. A human mitochondrial DNA standard reference material for quality control in forensic identification, medical diagnosis, and mutation detection[J]. Genomics, 1999, 55:135-146.
[26]
Deng L, He X Y, Tang B, et al. An improved quantitative real-time polymerase chain reaction technology for Helicobacter pylori detection in stomach tissue and its application value in clinical precision testing[J]. Biotechnol, 2020, 20(1):33-35.
Yan A X, Chen J, Liu H D, et al. Preparation of Plasmid DNA Reference Material Containing Human STR D6S1043-1 Fragment[J]. Current Biotechnology, 2020, 10(6):630-636.
[11]
Fregeau C J, Aubin R A, Elliott J C, et al. Characterization of human lymphoid cell lines GM9947 and GM9948 as intra and interlaboratory reference standards for DNA typing[J]. Genomics,1995,28:184-197.
[19]
Mo X T, Zhang J, Ma W H, et al. Developmental validation of the DNATyperTMY26 PCR amplification kit: An enhanced Y-STR multiplex for familial searching[J]. Forensic Sci Int Genet, 2019, 38:113-120.
[21]
ISO Guide 30-2015. Reference materials-selected terms and definitions[S].
Yang Z L, Bian X C, Liu Y Q, et al. Genomic DNA of CCC-HPF-2 cells may function as a reference standard for STR profiling[J]. Basic & Clinical Medicine, 2011, 31(12): 1376-1382.
Zhao X C, Sun J, Yin J, et al.Certified value study for alleles on STR loci of forensic DNA reference materials[J]. China Measurement & Test, 2012,38(4): 55-57.
[25]
OConnell C D, Tian J, Juhasz A, et al. Development of standard reference materials for diagnosis of p53 mutations: analysis by slab gel electrophoresis[J]. Electrophoresis, 1998, 19:164-171.
[27]
Barker P E,Watson M S,Ticehurst J R, et al. NIST Physical Standards for DNA-Based Medical Testing[J]. Journal of Clinical Laboratory Analysis, 2002,16(1):5-10.
Niu C Y, Zhang Y X Z, Yang J Y, et al. Resrach on the collaborative value assignment of plasmid nucleic acid reference materials based on digital PCR[J]. Acta Metrologica Sinica, 2021,42(11): 1522-1527.
Li D, Wang J, Yang Z, et al. Experimental design analysis of developing quantitative nucleic acid reference materials[J]. Acta Metrologica Sinica, 2020,41(11): 1436-1442.