RESUMEN
A sample of 203 Brazilian males from Rio Grande do Sul (RS), the Brazilian southernmost state, was typed for 11 Y-STR markers (DYS19, DYS389I/II, DYS390, DYS391, DYS392, DYS393, DYS385, DYS437, DYS438, and DYS439). We also typed 42 individuals from two South Amerindian tribes (Kaingang and Guarani) to use the data as parental Amerindian contribution to our analyses. Gene and haplotypic diversities were estimated, with the South Amerindian samples showing smaller values for these parameters than Brazilians. To obtain a more comprehensive picture of the genetic structure of the Brazilian population as a whole, the Y-STR data from the RS sample was compared with those already published. No genetic substructuring was observed in the comparisons performed. Multidimensional scaling confirmed the proposed European source of most Y-chromosome Brazilian patrilineages.
Asunto(s)
Cromosomas Humanos Y/genética , Genética de Población/métodos , Indígenas Sudamericanos/estadística & datos numéricos , Repeticiones de Microsatélite/genética , Alelos , Brasil , Femenino , Frecuencia de los Genes , Variación Genética , Genómica , Haplotipos , Humanos , Masculino , América del Sur , Secuencias Repetidas en TándemRESUMEN
Allele frequencies for 09 STR autosomal loci (D3S1358, D5S818, D7S820, D8S1179, D13S317, D18S51, D21S11, FGA and VWA) included in the AmpFlSTR Profiler Plus were obtained from a sample of unrelated individuals from Rio Grande do Sul (southern Brazil).
Asunto(s)
Marcadores Genéticos , Genética de Población , Secuencias Repetidas en Tándem , Brasil , Dermatoglifia del ADN/métodos , Frecuencia de los Genes , Humanos , Reacción en Cadena de la PolimerasaRESUMEN
Neutrality investigations of markers with forensic use are important to see if a phenotypic trait is being expressed in relation to the alleles of the marker. MiniSTR marker D22S1045 (locus 22q12.3) is localized near the breakpoint region of the EWS gene (22q12.2), which leads to the development of Ewing's Sarcoma. Analyzing allele frequencies and linkage disequilibrium in Ewing's sarcoma patients and non-affected populations, we found that the marker mD22S1045 was neutral when related to Ewing's Sarcoma.
Asunto(s)
Cromosomas Humanos 21-22 e Y/genética , Genética Forense/métodos , Desequilibrio de Ligamiento/genética , Sarcoma de Ewing/genética , Alelos , Estudios de Casos y Controles , Dermatoglifia del ADN/métodos , Marcadores Genéticos , Humanos , Repeticiones de Microsatélite/genética , FenotipoRESUMEN
A task-force to resolve 26 pending forensic caseworks was carried out. We tested four different protocols to extract DNA from molar and pre-molar teeth from 26 cadavers with post-mortem intervals from 2 months to 12 years. We compared the amount of DNA and DNA profiles with the time elapsed between death and laboratory procedures. Molar or pre-molar teeth were removed from the corpses, cleaned, and DNA was extracted using 2 or 12h of incubation on lysis buffer and filtered using concentration column or precipitated with isopropanol. DNA profiles were obtained using PowerPlex16™ System PCR Amplification Kit, AmpFlSTR(®) Yfiler™ and/or mtDNA sequencing. Complete DNA profiles comparison and statistical evaluation allowed unambiguous identification of the 26 victims. No significant differences were observed in the amount of DNA obtained with the distinct incubation times. The use of concentration column resulted in an increased amount of DNA when compared to isopropanol. However, the lower concentration of DNA obtained with isopropanol seemed to have been compensated by the higher purity. No significant differences in the number of amplified loci were found. A non-significant tendency was found between the amount of total DNA recovered and the time elapsed between death and laboratory procedures. The increase of post-mortem time did not interfere in the analysed autosomal loci. In conclusion, molar and pre-molar teeth were shown to be good candidates to obtain satisfactory DNA profiles, suggesting the high potential of tooth samples as source for DNA typing independently of the decomposed corpse's time or laboratory procedures.
Asunto(s)
Cadáver , Dermatoglifia del ADN/métodos , ADN/aislamiento & purificación , Odontología Forense/métodos , Diente Molar/química , Análisis de Varianza , Femenino , Sitios Genéticos , Humanos , Masculino , Cambios Post MortemRESUMEN
A sample of 255 Brazilian males from Rio Grande do Sul (RS), the Brazilian southernmost state, was typed for 17 Y-STR loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, YGATA_H4.1 and DYS385ab). A total of 247 haplotypes were identified, of which 239 were unique and eight were found in two individuals each. The haplotype diversity (99.98%) and discrimination capacity (96.86%) were calculated. Pairwise haplotype distances showed that the RS population is not significantly different from Brazil, Rio de Janeiro, and Argentina, is different from São Paulo, Italy, and North Portugal, and is very distant from Spain, the Amazon region, Germany, and South Amerindians. When the RS data was separated in the seven geopolitical regions, some pairs of regions were significantly different; however no region was different from the whole Brazilian sample.