Abstract
Since the discovery of deoxyribonucleic acid (DNA) profiling in 1985, forensic genetics has experienced a continuous technical revolution, both in the type of DNA markers used and in the methodologies or its detection. Highly informative and robust DNAtyping systems have been developed that have proven to be very effective in the individualization of biological material of human origin. DNA analysis has become the standard method in forensic genetics used by laboratories for the majority of forensic genetic expertise and especially in criminal forensic casework (stain analysis and hairs) and identification.
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References
Jeffreys, A. J., Wilson, V., and Thein, S. L. (1985) Hypervariable minisatellite regions in human DNA. Nature 314, 67–73.
The International Human Genome Mapping Consortium. (2001) Nature 409, 934.
Litt, M., and Luty, J. A. (1989) A hypervariable minisatellite revealed by in vitro amplification of a dinucleotide repeat within the cardiac muscle actin gene. Am. J. Hum. Genet. 44, 397–401.
Tautz, D. (1989) Hypervariability of simple sequences as a general source for polymorphic DNA markers. Nucleic Acid Res. 17, 6463–6471.
Nakamura, Y., Leppert, M., O'Connell, P., Wolff, R., Holm, T., Culver, M., et al. (1987) Variable number of tandem repeats (VNTR) markers for human gene mapping. Science 235, 1616–1622.
Beckman J. S., and Weber, J. L. (1992) Survey of human and rat microsatellites. Genomics 12, 627–631.
Jeffreys, A. J., Tamaki, K., MacLeod, A., Monckton, D. G., Neil, D. L., and Armour, J. A.L. (1994) Complex gene conversion events in germline mutation at human minisatellites. Nat. Genet. 6, 136–145.
Di Rienzo, A., Peterson, A. C., Garza, J. C., Valdes, A. M., Slatkin, M., and Freimer, N. B. (1994) Mutational processes of simple-sequence repeat loci in human populations. Proc. Natl. Acad. Sci. USA 91, 3166–3170.
Southern, E. M. (1975) Detection of specific sequences among DNA fragments separated by gel electrophoresis. J. Mol. Biol. 98, 503–517.
Mullis, K., and Faloona, F. (1987) Specific synthesis of DNA in vitro via polymerase-catalyzed chain reaction, in Methods in Enzymology (Wu, R., ed.), Academic Press, New York, pp. 335–350.
Kleppe, K., Ohstuka, E., Kleppe, R., Molineux, L., and Khorana, H. G. (1971) Studies on polynucleotides. XCVI. Repair replications of short synthetic DNA’s as catalyzed by DNA polymerases. J. Mol. Biol. 56, 341–361.
Hagelberg, E., Sykes, B., and Hedges, R. (1989) Ancient bone DNA amplified. Nature 342, 485.
Alvarez-García, A., Muñoz, I., Pestoni, C., Lareu, M. V., Rodríguez-Calvo, M. S., and Carracedo, A. (1996) Effect of environmental factors on PCR-DNA analysis from dental pulp. Int. J. Legal Med. 109, 125–129.
Conner, B. J., Reyes, A. A., Morin, C., Itakura, K., Teplitz, R. L., and Wallace, R. B. (1983) Detection of sickle cell beta S-globin allele by hybridization with synthetic oligonucleotides. Proc. Natl. Acad. Sci. USA 80, 278–282.
Saiki, R., Bugawan, T. L., Horn, T. G., Mullis, K. B., and Erlich, H. A. (1986) Analysis of enzymatically amplified beta-globin and HLA-DQ alpha DNA with allele-specific oligonucleotide probes. Nature 324, 163.
Saiki, R. K., Walsh, P. S., Levenson C. H., and Erlich, H. A. (1989) Genetic analysis of amplified DNA with immobilized sequence-specific oligonucleotide probes. Proc. Natl. Acad. Sci. USA 86, 6230–6234.
Gross, A. M., and Guerrieri, R. A. (1996) HLA DQA1 and Polymarker validations for forensic casework: standard specimens, reproducibility, and mixed specimens. J. Forensic Sci. 41, 1022–1026.
Budowle, B., Giusti, A. M., and Allen R. C. (1990). Analysis of PCR products (pMCT118) by polyacrylamide gel electrophoresis, in Advances in Forensic Haemogenetics (Polesky, H. F., and Mayr, W. R., eds), Springer, Berlin, 148–150.
Hauge X. Y., and Litt, M. (1993) A study of the origin of “shadow bands” seen when typing dinucleotide repeat polymorphisms by the PCR. Hum. Mol. Genet. 2, 411–415.
Urquhart, A., Kimpton, C., Downes, T. J., and Gill, P. (1994) Variation in short tandem repeat sequences-a survey of twelve microsatellite loci for use as forensic identification markers. Int. J. Legal Med. 107, 13–20.
Brinkmann, B., Klintschar, M., Neuhuber, F., Hühne, J., and Rolf, B. (1998) Mutation rate in human microsatellites: influence of the structure and length of the tandem repeat. Am. J. Hum. Genet. 62, 1408–1415.
Lareu, M. V., Pestoni, C., Phillips, C., Barros, F., Synder Combe-Court, D., Lincoln, P., et al. (1998) Normal and anomalous electrophoretic behaviour of PCRbased DNA polymorphisms in polyacrylamide gels. Electrophoresis 19, 1566–1573.
Gill, P., Sparkes, R., and Kimpton, C. (1997) Development of guidelines to designate alleles using an STR multiplex system. Forensic Sci. Int. 89, 185–197.
Gill, P., Whitaker, J., Flaxman, C., Brown, N., and Buckleton, J. (2000) An investigation of the rigor of interpretation rules for STRs derived from less than 100 pg of DNA. Forensic Sci. Int. 112, 17–40.
Kayser, M., Cagliá, A., Corach, D., Fretwell, N., Gehrig, C., Graziosi, G., et al. (1997) Evaluation of Y-chromosomal STRs: a multicenter study. Int. J. Legal Med. 110, 125–133.
White, P. S., Tatum, O. L., Deaven, L. L., and Longmire, J. L. (1999) New, malespecific microsatellite markers from the human Y chromosome. Genomics 57, 433–437.
Ayub, Q., Mohyuddin, A., Qamar, R., Mazhar, K., Zerjal, T., Mehdi, S., et al. (2000) Identification and characterization of novel human Y chromosomal microsatellites from sequences database information. Nucl. Acids Res. 28, e8.
Roewer, L., Krawczak, M., Willuweit, S., Nagy, M., Alves, C., Amorim, A., et al. (2001) Online reference database of European Y-chromosomal short tandem repeat (STR) haplotypes. Forensic Sci. Int. 118, 106–113
Roewer, L. (2001) Y chromosome polymorphisms. Forensic Sci. Int. 118, 105.
Hering, S., and Szibor, R. (2000) Development of the X-linked tetrameric microsatellite marker DXS9898 for forensic purposes. J. Forensic Sci. 45, 929–931.
Carracedo, A., D'Aloja, E., Dupuy, B., Jangblad, A., Karjalainen, M., Lambert, C., et al. (1998) Reproducibility between laboratories of mtDNA analysis: a report of the European DNA Profiling Group (EDNAP). Forensic Sci. Int. 97, 165–170.
Holland, M. M., and Parsons, T. J. (1999) Mitochondrial DNA analysis-validation and use for forensic casework. Forensic Sci. Rev. 11, 1–25.
Carracedo, A., Bär, W., Lincoln, P. J., Mayr, W., Morling, N., Olaisen, B., et al. (2000). DNA Commission of the International Society for Forensic Genetics: guidelines for mitochondrial DNA typing. Forensic Sci. Int. 110, 79–85.
Tully, G., Bär, W., Brinkmann, B., Carracedo, A., Gill, P., Morling, N., Parson, W., and Schneider, P. (2001) Considerations by the European DNA Profiling (EDNAP) group on the working practices, nomenclature and interpretation of mitochodrial DNA profiles. Forensic Sci. Int. 124, 83–91.
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Carracedo, A., Sánchez-Diz, P. (2005). Forensic DNA-Typing Technologies. In: Carracedo, A. (eds) Forensic DNA Typing Protocols. Methods in Molecular Biology, vol 297. Humana Press. https://doi.org/10.1385/1-59259-867-6:001
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DOI: https://doi.org/10.1385/1-59259-867-6:001
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