RESUMEN
Introduction: The HUMACTBP2 (SE33) locus is one of the most polymorphic markers commonly used in forensic human identification. Variability of SE33 was studied in 2 Calabria and Malta populations using the AmpFlSTR NGM SElect™ PCR Amplification Kit (Applied Biosystems) and the PowerPlex ESI 17 (Promega). Material & Methods: A total of 41 different alleles were observed in the 2 examined populations with no allele being more frequent than 10,5%. In the Maltese population more intermediate alleles than in Calabria were found. Allelic frequencies and statistical parameters of forensic interest (Dp,PE, RMP) were calculated using PowerStats v.1.2 software. Hardy-Weinberg equilibrium and other population parameters were calculated using Arlequin v.3.1 and TFPGA v1.3 softwares. Results: No significant deviations from Hardy–Weinberg equilibrium were found. Calabria and Malta allelic frequencies were compared to previously published population data and no significant differences were found. When comparing with Sicily no overall significant genetic distances were found, while comparison to other populations showed significant ones. Moreover comparison with non-European population showed no big distances between Germany and Morocco and between Hungary and Turkey. Conclusion: confirmed the locus is effectively highly polymorphic and useful not only for forensic identification but also in paternity cases in addition to the set of STRs loci commonly used..
RESUMEN
Los microsatélites o STR por su sigla en inglés (Short Tandem Repeat) son repeticiones de secuencias cortas de nucleótidos a través del DNA, de gran importancia debido a su carácter polimórfico que permite su utilización en la identificación genética de individuos o poblacionales. En este trabajo se investigaron los perfiles genéticos de una muestra de poblaciones humanas del altiplano cundiboyacense en Colombia; se usaron los marcadores STR's D2S1338, D19S433, PENTA D, PENTA E y SE-33. Éstos cinco STR's fueron amplificados mediante reacción en cadena de la polimerasa (PCR), corridos con electroforesis capilar, y tipificados con los programas Genscan y Genotyper. Como resultado se reportan las frecuencias alélicas de los cinco microsatélites (no reportados anteriormente para esta región). Se encontró que los loci D19S433 y SE-33 no están en equilibrio de Hardy-Weinberg; y que el Penta E tiene el mayor poder de discriminación. La distribución de las frecuencias alélicas para los cinco marcadores, en las dos poblaciones analizadas mostró que no existen diferencias estadísticas significativas entre ellas.
Microsatellites (STR's) are short tandem repeat sequences of nucleotides through DNA, very important for their polymorphic character that allow their utilization in population genetic identification. The STR's markers D2S1338, D19S433, PENTA D, PENTA E y SE33 were used to do the genetic profiles of human populations from the Cundiboyacense region in Colombia. The five STR's were amplified by PCR (polymerase chain reaction), indentified with capillary electrophoresis, and typified with Genscan and Genotyper software. Allelic frequencies of the five microsatellites are reported (not previously reported for this region). It was found that loci D19S433 y SE-33 are not in Hardy-Weinberg equilibrium; and Penta E provides the greatest power of discrimination. The allelic frequencies distribution to these five markers, in the two populations studied show that it does not exist statistically significant differences between them.