Abstract
Quality control is essential to the integrity and scientific validity of the DNA test result in human identification. In all scientific methods, there is room for error, and a process must be in place to guarantee that reagents, equipment, and methods are functioning properly. Four main areas are highlighted in this chapter: DNA collection methods, polymerase chain reaction (PCR) factors, electrokinetic injection considerations, and DNA data interpretation. Forensic science laboratories are provided guidance documents by the DNA Advisory Board and the Organization of Scientific Area Committees designed to improve uniformity in DNA test results nationwide. As a path forward, this is necessary since much of past policy created a situation of variation in methodology and data interpretation. It is highly desirable to have a simple uniform methodology that can be applied globally for sharing of data and consistency in the courts.
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References
Aparna R, Shanti Iyer R (2020) Tears and eyewear in forensic investigation – a review. Forensic Sci Int 306:110055. https://doi.org/10.1016/j.forsciint.2019.110055
Arya M, Shergill IS, Williamson M, Gommersall L, Arya N, Patel HR (2005) Basic principles of real-time quantitative PCR. Expert Rev Mol Diagn 5(2):209–219. https://doi.org/10.1586/14737159.5.2.209
Bauer DW, Butt N, Hornyak JM, Perlin MW (2020) Validating TrueAllele® interpretation of DNA mixtures containing up to ten unknown contributors. J Forensic Sci 65(2):380–398. https://doi.org/10.1111/1556-4029.14204
Brauner P (2012) RE. Subjectivity and bias in forensic DNA mixture interpretation. Sci Justice 52(2):131; author reply 132. https://doi.org/10.1016/j.scijus.2012.04.001
Bright JA, Huizing E, Melia L, Buckleton J (2011) Determination of the variables affecting mixed MiniFiler™ DNA profiles. Forensic Sci Int Genet 5(5):381–385. https://doi.org/10.1016/j.fsigen.2010.08.006
Bright JA, Cheng K, Kerr Z, McGovern C, Kelly H, Moretti TR, Smith MA, Bieber FR, Budowle B, Coble MD, Alghafri R, Allen PS, Barber A, Beamer V, Buettner C, Russell M, Gehrig C, Hicks T, Charak J, Cheong-Wing K, Ciecko A, Davis CT, Donley M, Pedersen N, Gartside B, Granger D, Greer-Ritzheimer M, Reisinger E, Kennedy J, Grammer E, Kaplan M, Hansen D, Larsen HJ, Laureano A, Li C, Lien E, Lindberg E, Kelly C, Mallinder B, Malsom S, Yacovone-Margetts A, McWhorter A, Prajapati SM, Powell T, Shutler G, Stevenson K, Stonehouse AR, Smith L, Murakami J, Halsing E, Wright D, Clark L, Taylor DA, Buckleton J (2019) STRmix™ collaborative exercise on DNA mixture interpretation. Forensic Sci Int Genet 40:1–8. https://doi.org/10.1016/j.fsigen.2019.01.006
Buckleton JS, Bright JA, Cheng K, Budowle B, Coble MD (2018) NIST interlaboratory studies involving DNA mixtures (MIX13): a modern analysis. Forensic Sci Int Genet 37:172–179. https://doi.org/10.1016/j.fsigen.2018.08.014
Buckleton JS, Bright JA, Gittelson S, Moretti TR, Onorato AJ, Bieber FR, Budowle B, Taylor DA (2019) The probabilistic genotyping software STRmix: utility and evidence for its validity. J Forensic Sci 64(2):393–405. https://doi.org/10.1111/1556-4029.13898
Butler JM, Kline MC, Coble MD (2018) NIST interlaboratory studies involving DNA mixtures (MIX05 and MIX13): variation observed and lessons learned. Forensic Sci Int Genet 37:81–94. https://doi.org/10.1016/j.fsigen.2018.07.024
Dror I (2012) Letter to the editor–combating bias: the next step in fighting cognitive and psychological contamination. J Forensic Sci 57(1):276–277. https://doi.org/10.1111/j.1556-4029.2011.01940.x
Dror IE (2015) Cognitive neuroscience in forensic science: understanding and utilizing the human element. Philos Trans R Soc Lond Ser B Biol Sci 370(1674). https://doi.org/10.1098/rstb.2014.0255
Dror IE, Hampikian G (2011) Subjectivity and bias in forensic DNA mixture interpretation. Sci Justice 51(4):204–208. https://doi.org/10.1016/j.scijus.2011.08.004
Dror IE, Thompson WC, Meissner CA, Kornfield I, Krane D, Saks M, Risinger M (2015) Letter to the editor- context management toolbox: a linear sequential unmasking (LSU) approach for minimizing cognitive bias in forensic decision making. J Forensic Sci 60(4):1111–1112. https://doi.org/10.1111/1556-4029.12805
Ewing MM, Thompson JM, McLaren RS, Purpero VM, Thomas KJ, Dobrowski PA, DeGroot GA, Romsos EL, Storts DR (2016) Human DNA quantification and sample quality assessment: developmental validation of the PowerQuant(®) system. Forensic Sci Int Genet 23:166–177. https://doi.org/10.1016/j.fsigen.2016.04.007
Garvin AM, Holzinger R, Berner F, Krebs W, Hostettler B, Lardi E, Hertli C, Quartermaine R, Stamm C (2013) The forensiX evidence collection tube and its impact on DNA preservation and recovery. Biomed Res Int 2013:105797. https://doi.org/10.1155/2013/105797
Gill P, Brenner CH, Buckleton JS, Carracedo A, Krawczak M, Mayr WR, Morling N, Prinz M, Schneider PM, Weir BS (2006) DNA Commission of the International Society of Forensic Genetics: recommendations on the interpretation of mixtures. Forensic Sci Int 160(2–3):90–101
Gopinath S, Zhong C, Nguyen V, Ge J, Lagacé RE, Short ML, Mulero JJ (2016) Developmental validation of the Yfiler(®) plus PCR amplification kit: an enhanced Y-STR multiplex for casework and database applications. Forensic Sci Int Genet 24:164–175. https://doi.org/10.1016/j.fsigen.2016.07.006
Goray M, van Oorschot RA, Mitchell JR (2012) DNA transfer within forensic exhibit packaging: potential for DNA loss and relocation. Forensic Sci Int Genet 6(2):158–166. https://doi.org/10.1016/j.fsigen.2011.03.013
Green MR, Sambrook J (2019) Polymerase chain reaction. Cold Spring Harb Protoc 2019(6). https://doi.org/10.1101/pdb.top095109
Greenspoon SA, Schiermeier-Wood L, Jenkins BC (2015) Establishing the limits of TrueAllele® casework: a validation study. J Forensic Sci 60(5):1263–1276. https://doi.org/10.1111/1556-4029.12810
Hebda LM, Doran AE, Foran DR (2014) Collecting and analyzing DNA evidence from fingernails: a comparative study. J Forensic Sci 59(5):1343–1350. https://doi.org/10.1111/1556-4029.12465
Hill CR, Kline MC, Mulero JJ, Lagacé RE, Chang CW, Hennessy LK, Butler JM (2007) Concordance study between the AmpFlSTR MiniFiler PCR amplification kit and conventional STR typing kits. J Forensic Sci 52(4):870–873. https://doi.org/10.1111/j.1556-4029.2007.00491.x
Ip SC, Lin SW, Li C, Lai KM (2014) Forensic DNA typing strategy of degraded DNA on discarded cigarette ends using the AmpFℓSTR® Identifiler®, Identifiler® Plus and MiniFiler™ PCR amplification kits. Sci Justice 54(4):311–315
Kirby A, Chance-Johnson J, Miller Coyle H (2017) The effect of the analytical threshold on the loss and gain of data from single source and mixed DNA samples. Int Res J Comput Sci 4(8):50–55
Krivácsy Z, Gelencsér A, Hlavay J, Kiss G, Sárvári Z (1999) Electrokinetic injection in capillary electrophoresis and its application to the analysis of inorganic compounds. J Chromatogr A 834(1–2):21–44. https://doi.org/10.1016/s0021-9673(98)00861-9
Lee HC, Ladd C (2001) Preservation and collection of biological evidence. Croat Med J 42(3):225–228
Liu QL, Luo H, Zhao H, Huang XL, Cheng JD, Lu DJ (2014) Recombination analysis of autosomal short tandem repeats in Chinese Han families. Electrophoresis 35(6):883–887. https://doi.org/10.1002/elps.201300417
Luce C, Montpetit S, Gangitano D, O’Donnell P (2009) Validation of the AMPFlSTR MiniFiler PCR amplification kit for use in forensic casework. J Forensic Sci 54(5):1046–1054. https://doi.org/10.1111/j.1556-4029.2009.01099.x
Marjanović D, Durmić-Pasić A, Kovacević L, Avdić J, Dzehverović M, Haverić S, Ramić J, Kalamujić B, Lukić Bilela L, Skaro V, Projić P, Bajrović K, Drobnic K, Davoren J, Primorac D (2009) Identification of skeletal remains of Communist Armed Forces victims during and after World War II: combined Y-chromosome (STR) and MiniSTR approach. Croat Med J 50(3):296–304. https://doi.org/10.3325/cmj.2009.50.296
Mattijssen EJ, Kerkhoff W, Berger CE, Dror IE, Stoel RD (2016) Implementing context information management in forensic casework: minimizing contextual bias in firearms examination. Sci Justice 56(2):113–122. https://doi.org/10.1016/j.scijus.2015.11.004
Miller Coyle H (2015) Quality control and duplication for concordance in forensic DNA samples: implications for interpretation in mixtures. IRJCS 6(2):16–18
Moretti TR, Just RS, Kehl SC, Willis LE, Buckleton JS, Bright JA, Taylor DA, Onorato AJ (2017) Internal validation of STRmix™ for the interpretation of single source and mixed DNA profiles. Forensic Sci Int Genet 29:126–144. https://doi.org/10.1016/j.fsigen.2017.04.004
Morton NE, Collins AE (1995) Statistical and genetic aspects of quality control for DNA identification. Electrophoresis 16(9):1670–1677. https://doi.org/10.1002/elps.11501601277
Mulero JJ, Chang CW, Lagacé RE, Wang DY, Bas JL, McMahon TP, Hennessy LK (2008) Development and validation of the AmpFlSTR MiniFiler PCR Amplification Kit: a MiniSTR multiplex for the analysis of degraded and/or PCR inhibited DNA. J Forensic Sci 53(4):838–852. https://doi.org/10.1111/j.1556-4029.2008.00760.x
Nakhaeizadeh S, Dror IE, Morgan RM (2014) Cognitive bias in forensic anthropology: visual assessment of skeletal remains is susceptible to confirmation bias. Sci Justice 54(3):208–214. https://doi.org/10.1016/j.scijus.2013.11.003
Opekar F, Nesměrák K, Tůma P (2016) Electrokinetic injection of samples into a short electrophoretic capillary controlled by piezoelectric micropumps. Electrophoresis 37(4):595–600. https://doi.org/10.1002/elps.201500464
Pandeshwar P, Das R (2014) Role of oral fluids in DNA investigations. J Forensic Legal Med 22:45–50. https://doi.org/10.1016/j.jflm.2013.12.007
Perlin MW, Legler MM, Spencer CE, Smith JL, Allan WP, Belrose JL, Duceman BW (2011) Validating TrueAllele® DNA mixture interpretation. J Forensic Sci 56(6):1430–1447. https://doi.org/10.1111/j.1556-4029.2011.01859.x
Perlin MW, Hornyak JM, Sugimoto G, Miller KW (2015) TrueAllele(®) genotype identification on DNA mixtures containing up to five unknown contributors. J Forensic Sci 60(4):857–868. https://doi.org/10.1111/1556-4029.12788
Pilli E, Modi A, Serpico C, Achilli A, Lancioni H, Lippi B, Bertoldi F, Gelichi S, Lari M, Caramelli D (2013) Monitoring DNA contamination in handled vs. directly excavated ancient human skeletal remains. PLoS One 8(1):e52524. https://doi.org/10.1371/journal.pone.0052524
Pollin TI, McBride DJ, Agarwala R, Schäffer AA, Shuldiner AR, Mitchell BD, O’Connell JR (2008) Investigations of the Y chromosome, male founder structure and YSTR mutation rates in the Old Order Amish. Hum Hered 65(2):91–104. https://doi.org/10.1159/000108941
Raymaekers M, Smets R, Maes B, Cartuyvels R (2009) Checklist for optimization and validation of real-time PCR assays. J Clin Lab Anal 23(3):145–151. https://doi.org/10.1002/jcla.20307
Shi CM, Li C, Ma L, Chi L, Zhao J, Yuan W, Zhou Z, Yan JW, Chen H (2018) Inferring Chinese surnames with Y-STR profiles. Forensic Sci Int Genet 33:66–71. https://doi.org/10.1016/j.fsigen.2017.11.014
Shuqin H, Yunliang Z, Xintang S, Xiaoping L, Hongtao Y (2010) Genetic variation analysis of 15 autosomal STR loci of AmpFℓSTR® Sinofiler™ PCR Amplification Kit in Henan (central China) Han population. Legal Med 12(3):160–161. https://doi.org/10.1016/j.legalmed.2010.02.004
Singh UA, Kumari M, Iyengar S (2018) Method for improving the quality of genomic DNA obtained from minute quantities of tissue and blood samples using Chelex 100 resin. Biol Proced Online 20:12. https://doi.org/10.1186/s12575-018-0077-6
Skellern C (2015) Minimising bias in the forensic evaluation of suspicious paediatric injury. J Forensic Legal Med 34:11–16. https://doi.org/10.1016/j.jflm.2015.05.002
Swango KL, Hudlow WR, Timken MD, Buoncristiani MR (2007) Developmental validation of a multiplex qPCR assay for assessing the quantity and quality of nuclear DNA in forensic samples. Forensic Sci Int 170(1):35–45. https://doi.org/10.1016/j.forsciint.2006.09.002
Szkuta B, Oorschot RAHV, Ballantyne KN (2017) DNA decontamination of fingerprint brushes. Forensic Sci Int 277:41–50. https://doi.org/10.1016/j.forsciint.2017.05.009
Tan SC, Yiap BC (2009) DNA, RNA, and protein extraction: the past and the present. J Biomed Biotechnol 2009:574398. https://doi.org/10.1155/2009/574398
Whiting R, Miller Coyle H (2019) Haplotype analysis for Irish ancestry. Forensic Sci Res. https://doi.org/10.1080/20961790.2019.1639881
Zajac GJM, Fritsche LG, Weinstock JS, Dagenais SL, Lyons RH, Brummett CM, Abecasis GR (2019) Estimation of DNA contamination and its sources in genotyped samples. Genet Epidemiol 43(8):980–995. https://doi.org/10.1002/gepi.22257
Zhou H, Bi G, Zhang C, Liu Y, Chen R, Li F, Mei X, Guo Y, Zheng W (2016) Developmental validation of forensic DNA-STR kits: expressmarker 16+10Y and expressmarker 16+18Y. Forensic Sci Int Genet 24:1–17. https://doi.org/10.1016/j.fsigen.2016.05.011
Zhu H, Zhang H, Xu Y, Laššáková S, Korabečná M, Neužil P (2020) PCR past, present and future. BioTechniques 69(4):317–325. https://doi.org/10.2144/btn-2020-0057
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Miller Coyle, H. (2021). Quality Control Measures in Short Tandem Repeat (STR) Analysis. In: Dash, H.R., Shrivastava, P., Lorente, J.A. (eds) Handbook of DNA Profiling. Springer, Singapore. https://doi.org/10.1007/978-981-15-9364-2_53-1
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DOI: https://doi.org/10.1007/978-981-15-9364-2_53-1
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