RESUMO
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.
Assuntos
Alelos , Variação Genética , Sequência de Bases , Eletroforese Capilar , Frequência do Gene , Humanos , Masculino , Reação em Cadeia da Polimerase , Análise de Sequência de DNA , Sequências de Repetição em TandemRESUMO
To assess the paternal history of the Mbyá-Guaraní Amerindians of northeast Argentina, we examined the genetic variation in seven Y-chromosome loci: the binary marker M3 at locus DYS199, and six short tandem repeats (DYS19, DYS389I, DYS389II, DYS390, DYS391, and DYS393). The most striking finding is the high frequency among the Mbyá-Guaraní of Q3 lineages with the usually rare alleles DYS391*11 and DYS393*11, which could be the result of a founder effect, given the recent history of the population.
Assuntos
Efeito Fundador , Variação Genética , Genética Populacional , Indígenas Sul-Americanos/genética , Sequências de Repetição em Tandem , Alelos , Argentina , Cromossomos Humanos Y , Haplótipos , Humanos , Masculino , Polimorfismo GenéticoRESUMO
POPULATION: Urban and countryside population of Córdoba (Argentina).
Assuntos
Frequência do Gene , Genética Populacional , Sequências de Repetição em Tandem , Argentina , Impressões Digitais de DNA/métodos , HumanosRESUMO
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).