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The Scientific World Journal
Volume 2012 (2012), Article ID 917235, 8 pages
Mutation at the Human D1S80 Minisatellite Locus
1School of Criminal Justice, University of Southern Mississippi, 118 College Drive # 5127, Hattiesburg, MS 39406, USA
2Department of Biology, Florida International University, University Park Campus, Miami, FL 33199, USA
3DNA Identification Testing Division, Laboratory Corporation of America, 1440 York Court Extension, Burlington, NC 27215, USA
4Broward County Sheriff's Office, Forensic Laboratory DNA Unit, Fort Lauderdale, FL 33301, USA
Received 30 October 2011; Accepted 5 January 2012
Academic Editors: P. Momigliano Richiardi, P. Y. Woon, and N. Zhang
Copyright © 2012 Kuppareddi Balamurugan et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
- B. Lewin, Genes IV., Oxford University Press, New York, NY, USA, 1990.
- G. F. Richard, A. Kerrest, and B. Dujon, “Comparative genomics and molecular dynamics of DNA repeats in eukaryotes,” Microbiology and Molecular Biology Reviews, vol. 72, no. 4, pp. 686–727, 2008.
- D. L. Ellsworth, M. D. Shriver, and E. Boerwinkle, “Nucleotide sequence analysis of the apolipoprotein B 3' VNTR,” Human Molecular Genetics, vol. 4, no. 5, pp. 937–944, 1995.
- R. Saferstein, Forensic Science Handbook, Regents/Prentice Hall, Englewood Cliffs, NJ, USA, 1993.
- J. A. L. Armour and A. J. Jeffreys, “Biology and applications of human minisatellite loci,” Current Opinion in Genetics and Development, vol. 2, no. 6, pp. 850–856, 1992.
- J. A. L. Armour, P. C. Harris, and A. J. Jeffreys, “Allelic diversity at minisatellite MS205 (D16S309): evidence for polarized variability,” Human Molecular Genetics, vol. 2, no. 8, pp. 1137–1145, 1993.
- A. J. Jeffreys, V. Wilson, and S. L. Thein, “Hypervariable 'minisatellite' regions in human DNA,” Nature, vol. 314, no. 6006, pp. 67–73, 1985.
- W. Stephan, “Tandem-repetitive noncoding DNA: forms and forces,” Molecular Biology and Evolution, vol. 6, no. 2, pp. 198–212, 1989.
- G. P. Smith, “Evolution of repeated DNA sequences by unequal crossover,” Science, vol. 191, no. 4227, pp. 528–535, 1976.
- P. R. J. Bois, “Hypermutable minisatellites, a human affair?” Genomics, vol. 81, no. 4, pp. 349–355, 2003.
- C. B. Kunst and S. T. Warren, “Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles,” Cell, vol. 77, no. 6, pp. 853–861, 1994.
- A. J. Jeffreys, A. MacLeod, K. Tamaki, D. L. Neil, and D. Monckton, “Minisatellite repeat coding as a digital approach to DNA typing,” Nature, vol. 354, no. 6350, pp. 204–209, 1991.
- R. K. Wolff, R. Plaetke, A. J. Jeffreys, and R. White, “Unequal crossingover between homologous chromosomes is not the major mechanism involved in the generation of new alleles at VNTR loci,” Genomics, vol. 5, no. 2, pp. 382–384, 1989.
- A. J. Jeffreys, M. J. Allen, J. A. L. Armour et al., “Mutation processes at human minisatellites,” Electrophoresis, vol. 16, no. 9, pp. 1577–1585, 1995.
- I. C. Gray and A. J. Jeffreys, “Evolutionary transience of hypervariable minisatellites in man and the primates,” Proceedings of the Royal Society B, vol. 243, no. 1308, pp. 241–253, 1991.
- K. Kasai, Y. Nakamura, and R. White, “Amplification of a variable number of tandem repeats (VNTR) locus (pMCT118) by the polymerase chain reaction (PCR) and its application to forensic science,” Journal of Forensic Sciences, vol. 35, no. 5, pp. 1196–1200, 1990.
- Y. Nakamura, M. Carlson, K. Krapcho, and R. White, “Isolation and mapping of a polymorphic DNA sequence (pMCT118) on chromosome 1p [D1S80],” Nucleic Acids Research, vol. 16, no. 19, p. 9364, 1988.
- W. James Kent, C. W. Sugnet, T. S. Furey et al., “The human genome browser at UCSC,” Genome Research, vol. 12, no. 6, pp. 996–1006, 2002.
- W. J. Kent, “BLAT—the BLAST-like alignment tool,” Genome Research, vol. 12, no. 4, pp. 656–664, 2002.
- B. Budowle, R. Chakraborty, A. M. Giusti, A. J. Eisenberg, and R. C. Allen, “Analysis of the VNTR locus D1S80 by the PCR followed by high-resolution PAGE,” American Journal of Human Genetics, vol. 48, no. 1, pp. 137–144, 1991.
- A. Sajantila, B. Budowle, M. Strom et al., “PCR amplification of alleles at the D1S80 locus: comparison of a Finnish and a North American Caucasian population sample, and forensic casework evaluation,” American Journal of Human Genetics, vol. 50, no. 4, pp. 816–825, 1992.
- R. Deka, S. DeCroo, L. Jin et al., “Population genetic characteristics of the D1S80 locus in seven human populations,” Human Genetics, vol. 94, no. 3, pp. 252–258, 1994.
- K. Balamurugan, R. Pomeroy, G. Duncan, and M. Tracey, “Investigating SNPs flanking the D1S80 locus in a Tamil population from India,” Human Biology, vol. 82, no. 2, pp. 221–226, 2010.
- K. Balamurugan, N. Prabakaran, G. Duncan, B. Budowle, M. Tahir, and M. Tracey, “Allele frequencies of 13 STR loci and the D1S80 locus in a Tamil population from Madras, India,” Journal of Forensic Sciences, vol. 46, no. 6, pp. 1515–1517, 2001.
- S. K. Shapira, C. McCaskill, H. Northrup et al., “Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome,” American Journal of Human Genetics, vol. 61, no. 3, pp. 642–650, 1997.
- G. T. Duncan, K. Balamurugan, B. Budowle, and M. L. Tracey, “Hinf I/Tsp509 I and BsoF I polymorphisms in the flanking regions of the human VNTR locus D1S80,” Genetic Analysis, vol. 13, no. 5, pp. 119–121, 1996.
- S. A. Limborska, A. V. Khrunin, O. V. Flegontova, V. A. Tasitz, and D. A. Verbenko, “Specificity of genetic diversity in D1S80 revealed by SNP-VNTR haplotyping,” Annals of Human Biology, vol. 38, no. 5, pp. 564–569, 2011.
- Annual Report Summary for Testing in 2008, Prepared by the Relationship Testing Program Unit, http://www.aabb.org/sa/facilities/Documents/rtannrpt08.pdf.
- J. J. Wiens and M. R. Servedio, “Phylogenetic analysis and intraspecific variation: performance of parsimony, likelihood, and distance methods,” Systematic Biology, vol. 47, no. 2, pp. 228–253, 1998.
- E. Sober, “The contest between parsimony and likelihood,” Systematic Biology, vol. 53, no. 4, pp. 644–653, 2004.
- A. J. Jeffreys, K. Tamaki, A. MacLeod, D. G. Monckton, D. L. Neil, and J. A. L. Armour, “Complex gene conversion events in germline mutation at human minisatellites,” Nature Genetics, vol. 6, no. 2, pp. 136–145, 1994.
- K. Tamaki, C. H. Brenner, and A. J. Jeffreys, “Distinguishing minisatellite mutation from non-paternity by MVR-PCR,” Forensic Science International, vol. 113, no. 1–3, pp. 55–62, 2000.
- Y. E. Dubrova, G. Grant, A. A. Chumak, V. A. Stezhka, and A. N. Karakasian, “Elevated minisatellite mutation rate in the post-chernobyl families from Ukraine,” American Journal of Human Genetics, vol. 71, no. 4, pp. 801–809, 2002.
- A. J. Jeffreys, P. Bois, J. Buard et al., “Spontaneous and induced minisatellite instability,” Electrophoresis, vol. 18, no. 9, pp. 1501–1511, 1997.
- A. Sajantila, M. Lukka, and A. C. Syvänen, “Experimentally observed germline mutations at human micro- and minisatellite loci,” European Journal of Human Genetics, vol. 7, no. 2, pp. 263–266, 1999.
- M. D. Shriver, Origins and evolution of VNTR loci: the apolipoprotein B 3' VNTR, Ph.D. thesis, The University of Texas Health Science Center at Houston, Houston, Tex, USA, 1993.
- M. D. Shriver, L. Jin, R. Chakraborty, and E. Boerwinkle, “VNTR allele frequency distributions under the stepwise mutation model: a computer simulation approach,” Genetics, vol. 134, no. 3, pp. 983–993, 1993.
- I. Berg, R. Neumann, H. Cederberg, U. Rannug, and A. J. Jeffreys, “Two modes of germline instability at human minisatellite MS1 (locus D1S7): complex rearrangements and paradoxical hyperdeletion,” American Journal of Human Genetics, vol. 72, no. 6, pp. 1436–1447, 2003.