RESUMEN
The objective of the research was to provide a comprehensive database of autosomal microsatellite loci included in AmpFlSTR NGM PCR kit for a population of Poland considering possible genetic differentiation of a forensic interest. Fifteen STR markers were analyzed in 2041 unrelated individuals residing in eight geographically different regions. All the loci were found to be in Hardy-Weinberg equilibrium. The combined probability of match is 3.52 × 10(-19) and the combined Power of Exclusion is 0.9999998. The F(ST) estimate over all 15 STRs is 0.0051 for the Polish population. We established that a combined NGM database may be employed for a Polish population.
Asunto(s)
Dermatoglifia del ADN , Genética de Población , Repeticiones de Microsatélite , Frecuencia de los Genes , Humanos , Polonia , Reacción en Cadena en Tiempo Real de la PolimerasaRESUMEN
Fifteen autosomal STR loci included in AmpFlSTR NGM kit were analyzed in 154 unrelated individuals from Poland. This multiplex kit enables simultaneous amplification of 10 standard STR loci included in AmpFlSTR SGM Plus kit (D3S1358, vWA, D16S539, D2S1338, D8S1179, D19S433, TH01, FGA, D21S11 and D18S51) and five new mini- and midi-STR loci (D10S1248, D22S1045, D2S441, D1S1656 and D12S391). Population study was conducted to evaluate usefulness of the loci (especially the five new microsatellite systems) in forensic genetic identification examinations. All 15 markers were found to be in Hardy-Weinberg equilibrium. The combined probability of match for the 15 studied STR loci was 3.998 x 10(-19). The same parameter calculated for five new microsatellite loci equaled 8.83 x 10(-7). Discrimination power was particularly high in case of D1S1656 (0.975) and D12S391 (0.972) STR loci.
Asunto(s)
Variación Genética , Genética de Población , Secuencias Repetidas en Tándem/genética , Población Blanca/genética , Alelos , Genética Forense , Frecuencia de los Genes , Humanos , Polonia , Reacción en Cadena de la Polimerasa , Polimorfismo GenéticoRESUMEN
Seventeen Y-chromosomal short tandem repeat loci were analyzed in a sample of 435 unrelated healthy male individuals from Southern Poland (including highlanders from Tatra Mountains). One duplication in the locus DYS389II (29,30) and five microvariant alleles in the locus DYS458 were found. The most frequent haplotype, found in three individuals, was as follows (in the order of Yfiler loci): {16, 13, 25, 30, 15, 15, 11/14, 13, 11, 11, 10, 23, 11, 13, 14, 11, 21}. Gene diversity for South Poland population amounts close to 1.000. Performed differentiation test between all pairs of samples, based on haplotype frequencies, represented as non-differentiation exact P values indicates that there is no statistically significant differences in haplotype frequencies between South Poland and Austrian as well as South Poland and Wallachian populations.
Asunto(s)
Cromosomas Humanos Y , Genética de Población , Secuencias Repetidas en Tándem , Dermatoglifia del ADN , Frecuencia de los Genes , Haplotipos , Humanos , Masculino , Polonia , Reacción en Cadena de la PolimerasaRESUMEN
Prediction of physical appearance based on genetic analysis is a very attractive prospect for forensic investigations. Recent studies have proved that there is a significant association between some genetic variants of the melanocortin 1 receptor (MC1R) gene and red hair color. The present study focuses on the potential forensic applicability of variation within this pigment-related gene. Sequencing of the complete MC1R gene was performed on a group of red-haired individuals and controls with different pigmentation. A major role in determination of red hair color is played by two MC1R variants--C451T and C478T. The optimized minisequencing assay for genotyping of the above positions and three other important red hair-related MC1R polymorphisms, C252A, G425A, and G880C was successfully applied to analyze typical forensic specimens. Determination of a homozygous or heterozygous combination can be a good predictor of both red hair color and fair skin of a subject.
Asunto(s)
Color del Cabello/genética , Polimorfismo de Nucleótido Simple , Receptor de Melanocortina Tipo 1/genética , Estudios de Casos y Controles , Femenino , Genética Forense , Genotipo , Humanos , Masculino , Fenotipo , Reacción en Cadena de la Polimerasa , Análisis de Secuencia de ADN , Pigmentación de la Piel/genéticaRESUMEN
Frequency data of short tandem repeats loci included in the SGM Plus kit and on two pentanucleotide STR loci: Penta E and Penta D [Profiles DNA 2 (1998) 2] included in the PowerPlex16 kit were collected from a sample of 400 (for SGM Plus) and 91 (for Penta E and Penta D) random, unrelated individuals born in the South Poland region.
