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Characterization of the Variant Allele 9.2 of Penta D Locus*
Author(s) -
Miozzo María C.,
Maxzud Mariana K.,
Pacharoni Carla M.,
Mutal Silvia A.,
Modesti Nidia M.
Publication year - 2007
Publication title -
journal of forensic sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.715
H-Index - 96
eISSN - 1556-4029
pISSN - 0022-1198
DOI - 10.1111/j.1556-4029.2007.00533.x
Subject(s) - allele , locus (genetics) , genetics , biology , polymerase chain reaction , allele frequency , microbiology and biotechnology , gene , forensic genetics , microsatellite
Abstract: DNA profiles of forensic cases of Córdoba Province, Argentina, typed by PowerPlex ® 16 kit (Promega), have shown in the Penta D locus few samples with a variant allele migrating as an off ladder between alleles 9 and 10. In order to determine the molecular basis of the new variant allele, three samples were subject to polymerase chain reaction amplification of the Penta D locus by monoplex, and were further purified and sequenced. The sequence analysis revealed that the off ladder allele has ten repeats motifs AAAGA as allele 10, with three nucleotides (TAA) deletion in the 3′ flanking region, 128 nucleotides after the last repeat. Therefore, the variant allele could be explained by a deletion of allele 10, and was designated 9.2. Mse I digestion assay allows to corroborate allele 9.2 without sequencing. A population study in Córdoba Province indicates that allele 9.2 of Penta D locus has a frequency of 0.0063.