ABSTRACT
Currently, autosomal Short Tandem Repeat (STR) markers represent the method of election in forensic human identification. Commercial kits of most common use nowadays -e.g. PowerPlex®Fusion, Promega Corp.; AmpFlSTR GlobalFiler, Thermofisher scientific; Investigator 24Plex QS,Qiagen-, allow the co-amplification of 23 highly polymorphic STR loci providing a high discrimination power in human identity testing. However, in complex kinship analysis and familial database searches involving distant relationships, additional DNA typing is often required in order to achieve well-founded conclusions. The recently developed kit Investigator® HDplex (Qiagen) co-amplify twelve autosomal STRs markers (D7S1517, D3S1744, D12S391, D2S1360, D6S474, D4S2366, D8S1132, D5S2500, D18S51, D21S2055, D10S2325, SE33), nine of which are not present in the above mentioned kits, providing a set of efficient supplementary markers for human identification purposes. In this study we genotyped a sample of 980 individuals from urban areas of ten Argentinean provinces using the Investigator® HDplex kit, aiming to provide forensic estimates for use in forensic casework and parentage testing in Argentina. We report reference allelic frequency databases for each of the provinces studied as well as for the combined samples. No deviation of Hardy-Weinberg equilibrium was observed. A reasonable discrimination capacity and power of exclusion was estimated which allowed predicting an acceptable forensic behavior of this kit, either to be used as the main STR panel for simple cases or as an auxiliary tool in complex cases. Additionally, population comparison tests showed that the studied samples are relatively homogeneous across the country for these STR set.
Subject(s)
DNA Fingerprinting , Databases, Nucleic Acid , Genetics, Population , Microsatellite Repeats , Argentina , Gene Frequency , Genotype , HumansABSTRACT
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.
Subject(s)
Alleles , Genetic Variation , Base Sequence , Electrophoresis, Capillary , Gene Frequency , Humans , Male , Polymerase Chain Reaction , Sequence Analysis, DNA , Tandem Repeat SequencesABSTRACT
POPULATION: Urban and countryside population of Córdoba (Argentina).
Subject(s)
Gene Frequency , Genetics, Population , Tandem Repeat Sequences , Argentina , DNA Fingerprinting/methods , HumansABSTRACT
Allele and genotype frequencies for nine STRs loci included in the AmpFlSTR Profiler Plus kit (D3S1385, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317 and D7S820), were determined from urban and countryside population of Córdoba (Argentina). All loci meet the Hardy-Weinberg expectation, and there is little evidence for alleles association between these nine loci. The results demonstrate that these loci can be useful for databasing purposes in human identification and parentage testing in the population of Córdoba (Argentina).
