Role of short tandem repeat DNA in forensic casework in the UK--past, present, and future perspectives.

The analysis of short tandem repeat (STR) DNA sequences is of fundamental importance to forensic science because they have become the recognized standard in constructing national public databases. Consequently, considerable effort has been expended in developing multiplexed (one tube) reactions that analyze several loci in combination. The implementation of STRs in casework cannot take place without a full understanding of the systems used. The purpose of validation is to characterize multiplexes when one is challenged with forensic samples. For example, mixtures are often encountered that may be particularly difficult to interpret against a background of allelic artifacts. By increasing the number of PCR amplification cycles, it is possible to dramatically boost the sensitivity of the system so that just a handful of cells may be successfully analyzed. However, interpretation is much more complex because the origin of DNA profiles may be less certain and complicated by issues such as contamination, the potential for innocent transfer and a predominance of mixtures. This review provides a brief historical background of the development of STRs in forensic casework that culminated in the creation of national DNA databases. The development of guidelines to interpret complex DNA profiles, such as mixtures, is outlined. Finally, the recent innovation of low copy number DNA profiling is explained along with the special considerations needed to report in court.

[1]  T. Egeland,et al.  Extraction of DNA from decomposed human tissue. An evaluation of five extraction methods for short tandem repeat typing. , 1999, Forensic science international.

[2]  D J Balding,et al.  Evaluating DNA profile evidence when the suspect is identified through a database search. , 1996, Journal of forensic sciences.

[3]  David J. Werrett,et al.  The National DNA Database , 1997 .

[4]  B Herrmann,et al.  Optimized DNA extraction to improve reproducibility of short tandem repeat genotyping with highly degraded DNA as target , 1999, Electrophoresis.

[5]  P Gill,et al.  Development of guidelines to designate alleles using an STR multiplex system. , 1997, Forensic science international.

[6]  David Van Hoofstat,et al.  DNA typing of Fingerprints and Skin Debris: Sensitivity of Capillary Electrophoresis in Forensic Applications using Multiplex PCR , 1998 .

[7]  J A Lambert,et al.  Regional genetic variation in Caucasians. , 1998, Forensic science international.

[8]  P Gill,et al.  Report of the European Network of Forensic Science Institutes (ENSFI): formulation and testing of principles to evaluate STR multiplexes. , 2000, Forensic science international.

[9]  K. Mullis,et al.  Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. , 1985, Science.

[10]  A Walton,et al.  Automated DNA profiling employing multiplex amplification of short tandem repeat loci. , 1993, PCR methods and applications.

[11]  I. Evett,et al.  A hierarchy of propositions: deciding which level to address in casework , 1998 .

[12]  Ian W. Evett,et al.  Case pre-assessment and review in a two-way transfer case , 1999 .

[13]  W. E. Frank,et al.  A time course study on STR profiles derived from human bone, muscle, and bone marrow. , 1999, Journal of forensic sciences.

[14]  K. Mullis,et al.  Specific enzymatic amplification of DNA in vitro: the polymerase chain reaction. , 1986, Cold Spring Harbor symposia on quantitative biology.

[15]  D J Balding,et al.  When can a DNA profile be regarded as unique? , 1999, Science & justice : journal of the Forensic Science Society.

[16]  A Stockmarr,et al.  Likelihood Ratios for Evaluating DNA Evidence When the Suspect is Found Through a Database Search , 1999, Biometrics.

[17]  I W Evett,et al.  A guide to interpreting single locus profiles of DNA mixtures in forensic cases. , 1991, Journal - Forensic Science Society.

[18]  K. Mullis,et al.  Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction. , 1987, Methods in enzymology.

[19]  J A Lambert,et al.  Taking account of peak areas when interpreting mixed DNA profiles. , 1998, Journal of forensic sciences.

[20]  Lincoln Pj,et al.  DNA RECOMMENDATIONS : FURTHER REPORT OF THE DNA COMMISSION OF THE ISFH REGARDING THE USE OF SHORT TANDEM REPEAT SYSTEMS , 1997 .

[21]  S Watson,et al.  The validation of a 7-locus multiplex STR test for use in forensic casework. (I). Mixtures, ageing, degradation and species studies. , 1996, International journal of legal medicine.

[22]  P Taberlet,et al.  Reliable genotyping of samples with very low DNA quantities using PCR. , 1996, Nucleic acids research.

[23]  Russ Hoyle The FBI's national DNA database , 1998, Nature Biotechnology.

[24]  Keith L. Monson,et al.  Source Attribution of a Forensic DNA Profile , 2000 .

[25]  C. Strom,et al.  Use of nested PCR to identify charred human remains and minute amounts of blood. , 1998, Journal of forensic sciences.

[26]  B. Weir Genetic Data Analysis II. , 1997 .

[27]  P. Walsh,et al.  A rapid chemiluminescent method for quantitation of human DNA. , 1992, Nucleic acids research.

[28]  B. Weir,et al.  Interpreting DNA mixtures. , 1997, Journal of forensic sciences.

[29]  J. Ballantyne Mass disaster genetics , 1997, Nature Genetics.

[30]  D. Sweet,et al.  PCR-based DNA typing of saliva stains recovered from human skin. , 1997, Journal of forensic sciences.

[31]  P. Wiegand,et al.  DNA typing of epithelial cells after strangulation , 1997, International Journal of Legal Medicine.

[32]  Statistical and Population Genetics Issues Affecting the Evaluation of the Frequency of Occurrence of DNA Profiles Calculated From Pertinent Population Database , 2000 .

[33]  B Budowle,et al.  Population data on the thirteen CODIS core short tandem repeat loci in African Americans, U.S. Caucasians, Hispanics, Bahamians, Jamaicans, and Trinidadians. , 1999, Journal of forensic sciences.

[34]  R. Haugland,et al.  Characterization of PicoGreen reagent and development of a fluorescence-based solution assay for double-stranded DNA quantitation. , 1997, Analytical biochemistry.

[35]  C Kimpton,et al.  Report on the second EDNAP collaborative STR exercise. European DNA Profiling Group. , 1995, Forensic science international.

[36]  D J Balding,et al.  DNA profile match probability calculation: how to allow for population stratification, relatedness, database selection and single bands. , 1994, Forensic science international.

[37]  P. Gill,et al.  Report of the European DNA profiling group (EDNAP): an investigation of the complex STR loci D21S11 and HUMFIBRA (FGA). , 1997, Forensic science international.

[38]  W. G. Hill,et al.  Genetic Data Analysis II . By Bruce S. Weir, Sunderland, Massachusetts. Sinauer Associates, Inc.445 pages. ISBN 0-87893-902-4. , 1996 .

[39]  I. Evett,et al.  More on the hierarchy of propositions: exploring the distinction between explanations and propositions. , 2000, Science & justice : journal of the Forensic Science Society.

[40]  S. Hummel,et al.  DNA preservation: A microsatellite‐DNA study on ancient skeletal remains , 1999, Electrophoresis.

[41]  I. W. Evett,et al.  Statistical analyses to support forensic interpretation for a new ten-locus STR profiling system , 2001, International Journal of Legal Medicine.

[42]  B. Mevåg,et al.  Identification by DNA analysis of the victims of the August 1996 Spitsbergen civil aircraft disaster , 1997, Nature Genetics.

[43]  J. Whitaker,et al.  Analysis and interpretation of mixed forensic stains using DNA STR profiling. , 1998, Forensic science international.

[44]  S. Bramble,et al.  The effects of fingermark enhancement light sources on subsequent PCR-STR DNA analysis of fresh bloodstains. , 1997, Journal of forensic sciences.

[45]  Henry A. Erlich,et al.  Enzymatic amplification of ?-globin genomic sequences and restriction site analysis for diagnosis of , 1985 .

[46]  P. Walsh,et al.  Sequence analysis and characterization of stutter products at the tetranucleotide repeat locus vWA. , 1996, Nucleic acids research.

[47]  J. Murray,et al.  Tetranucleotide repeat polymorphism at the human alpha fibrinogen locus (FGA). , 1992, Human molecular genetics.

[48]  T M Clayton,et al.  Identification of bodies from the scene of a mass disaster using DNA amplification of short tandem repeat (STR) loci. , 1995, Forensic science international.

[49]  STR-genotyping of archaeological human bone: experimental design to improve reproducibility by optimisation of DNA extraction. , 2000, Anthropologischer Anzeiger; Bericht uber die biologisch-anthropologische Literatur.

[50]  Peter Gill,et al.  Interpretation of simple mixtures of when artefacts such as stutters are present : with special reference to multiplex STRs used by the forensic science service , 1998 .

[51]  H. C. Lee,et al.  A systematic analysis of secondary DNA transfer. , 1999, Journal of forensic sciences.

[52]  R. V. Oorschot,et al.  DNA fingerprints from fingerprints , 1997, Nature.