A new method of STR interpretation using inferential logic -development of a criminal intelligence database

Abstract A short tandem repeat (STR) system consisting of seven multiplexed loci has recently been introduced in the UK to support a National strategy to create large DNA databases for criminal intelligence purposes. The process uses automated sequencers, employing dye-labelled primers. Identification of tetrameric loci such as HUMTH01 are straightforward. Sizing windows are estimated by running a series of control allelic ladders on several gels and ‘unknown’ samples are designated if they fall within a defined window. However, utilisation of complex STRs (eg. D21 S 11) characteristically have common variants which differ by just 2 bp. In addition, rare alleles are encountered which may differ by just 1 by from a common variant. To assist with the identification of alleles, we have introduced a series of allelic ladders, so that direct comparisons with ‘unknown’ samples can be made on the same gel. To designate an allele, it should be within 0.5 by of an allelic ladder marker. Not all alleles (in particular rare alleles) can be included within an allelic ladder, however their expected positions can be easily calculated by reference to existing alleles in the ladder. Measurement of band shift is also a useful diagnostic tool. A series of guidelines are described to enable reliable allelic identification. These guidelines can be converted into computer programmes, which form the basis of an expert system.

[1]  B. Budowle,et al.  Forensic validation of the STR systems SE 33 and TC 11 , 1993, International Journal of Legal Medicine.

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

[3]  D A Jones,et al.  Blood samples: probability of discrimination. , 1972, Journal - Forensic Science Society.

[4]  T. M. Clayton,et al.  The validation of short tandem repeat (STR) loci for use in forensic casework , 2005, International Journal of Legal Medicine.

[5]  E. Hagelberg,et al.  Identification of the skeletal remains of Josef Mengele by DNA analysis. , 1992, Forensic science international.

[6]  W. Mayr,et al.  DNA Recommendations‐1994 Report Concerning Further Recommendations of the DNA Commission of the ISFH Regarding PCR‐Based Polymorphisms in STR (Short Tandem Repeat) Systems , 1995 .

[7]  C. Caskey,et al.  Allelic ladder characterization of the short tandem repeat polymorphism located in the 5' flanking region to the human coagulation factor XIII A subunit gene. , 1994, Genomics.

[8]  A. Urquhart,et al.  Variation in Short Tandem Repeat sequences —a survey of twelve microsatellite loci for use as forensic identification markers , 2005, International Journal of Legal Medicine.

[9]  C. Kimpton,et al.  A highly discriminating octoplex short tandem repeat polymerase chain reaction system suitable for human individual identification , 1995, Electrophoresis.

[10]  Peter Gill,et al.  Evaluation of an automated DNA profiling system employing multiplex amplification of four tetrameric STR loci , 2005, International Journal of Legal Medicine.

[11]  L. Mcbride,et al.  Application of automated DNA sizing technology for genotyping microsatellite loci. , 1992, Genomics.

[12]  L. Jin,et al.  Identification of repeat sequence heterogeneity at the polymorphic short tandem repeat locus HUMTH01[AATG]n and reassignment of alleles in population analysis by using a locus-specific allelic ladder. , 1993, American journal of human genetics.

[13]  P. Gill,et al.  Identification of the remains of the Romanov family by DNA analysis , 1994, Nature Genetics.

[14]  Ian C. Gray,et al.  Identification of the skeletal remains of a murder victim by DNA analysis , 1991, Nature.

[15]  L. Mcbride,et al.  Automated genetic analysis. , 1991, Annales de Biologie Clinique.

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

[17]  A R Brownlie,et al.  There is a time to speak. , 1972, Journal - Forensic Science Society.