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Characterization of the Variant Allele 9.2 of Penta D Locus

NCJ Number
Journal of Forensic Sciences Volume: 52 Issue: 5 Dated: September 2007 Pages: 1073-1076
Maria C. Miozzo Ph.D.; Mariana K. Maxzud Ph.D.; Carla M. Pacharoni B.S.; Silvia A. Mutal B.S.; Nidia M. Modesti Ph.D.
Date Published
September 2007
4 pages
This study characterized at the molecular level the new variant allele (9.2 of the Penta D locus) found in some DNA profiles of forensic cases in Cordoba Province, Argentina.
The sequence analysis revealed that the off-ladder allele 9.2 has 10 repeats motifs AAAGA as allele 10, with three nucleotides (TAA) deletion in the 3' flanking region, 128 nucleotides after the last repeat. The variant allele could be explained by a deletion of allele 10, thus leading to the designation 9.2. Mse I digestion assay allows the corroboration of allele 9.2 without sequencing. A population study in Cordoba Province found that allele 9.2 of Penta D locus has a frequency of 0.0063. Ethylene diamine tetracetic acid (EDTA) whole blood samples were collected from 631 unrelated individuals from Cordoba Province. This population included 250 individuals from a previous study done in the laboratory. These individuals were randomly selected from paternity and criminal cases that included both urban and rural populations. The 16 DNA loci of the kit GenePrint PowerPlex 16 system, including Penta D locus, were simultaneously amplified according to the manufacturer's instructions. PCR amplifications were performed in a GeneAmp PCR System 9600 or 9700. Samples were analyzed with the ABI Prism 310 Genetic analyzer. The allele assignment was made with the GeneScan analysis software and the Genotyper software by size comparison with allelic ladders from Promegas kits. This paper also describes sequence analysis, statistical analysis, and endonuclease Mse I digestion of the PCR products. 1 table, 3 figures, and 19 references