RESUMO
The study of X-chromosomal short tandem repeats (X-STRs) can complement the analysis of autosomal and Y-STRs. A decaplex system for the X-chromosome genetic markers, DXS8378, DXS9898, DXS7133, GATA31E08, GATA172D05, DXS7423, DXS6809, DXS7132, DXS9902 and DXS6789, was used to study a population sample of Santa Catarina, Brazil. 184 individuals (72 female and 112 male samples) were typed. DNA was amplified in a multiplex reaction and the automatic detection performed using capillary electrophoresis. Allele frequencies and some forensic parameters were calculated.
Assuntos
Cromossomos Humanos X , Frequência do Gene , Genética Populacional , Sequências de Repetição em Tandem , Brasil , Impressões Digitais de DNA , Eletroforese Capilar , Feminino , Marcadores Genéticos , Humanos , Masculino , Reação em Cadeia da PolimeraseRESUMO
The state of Santa Catarina (Brazil) is known to have represented a cultural crossroads in South America due to several historic migrations mainly from Europe and Africa. We set out to scrutinize whether the genetic imprint of these migrations could be traced through analysis of the matrilineal gene pool of the Catarinenses. The entire control region of the mitochondrial DNA was studied in 80 healthy and maternally unrelated individuals. The analysis of haplogroup distribution revealed that this population is extremely heterogeneous, showing the coexistence of matrilineal lineages with three different phylogeographic origins. European lineages are the most frequent due mainly to the impact of relatively recent migratory waves from Europe. In spite of this, Native American lineages and African lineages incorporated with the slave trade are also present in noticeable proportions. The strikingly high variability generated by intense gene flow is mirrored in a high sequence diversity (0.9930) and power of discrimination (0.9806). Thus, analysis of the entire mitochondrial DNA control region emerges as a valuable tool for forensic genetic purposes in this highly admixed population, an attribute common to several present-day Latin American populations.
Assuntos
DNA Mitocondrial/genética , Genética Populacional , Sequências de Repetição em Tandem , Brasil , Regiões Determinantes de Complementaridade/genética , Impressões Digitais de DNA , Emigração e Imigração , Europa (Continente) , Frequência do Gene , Genótipo , Haplótipos , Humanos , Dados de Sequência Molecular , Reação em Cadeia da Polimerase , Polimorfismo Genético , Grupos Raciais/genéticaRESUMO
One-hundred and nine unrelated and healthy males from Santa Catarina, Brazil were included in this study. Allele frequencies and gene diversities for the loci DYS456, DYS458 and DYS448 were calculated. A comparison between our population and others was performed.
Assuntos
Cromossomos Humanos Y , Variação Genética , Genética Populacional , Haplótipos , Sequências de Repetição em Tandem , Brasil , Impressões Digitais de DNA , Frequência do Gene , Humanos , Masculino , Reação em Cadeia da PolimeraseRESUMO
In a collaborative work carried out by the Spanish and Portuguese ISFG Working Group (GEP-ISFG), a polymerase chain reaction multiplex was optimized in order to type ten X-chromosome short tandem repeats (STRs) in a single reaction, including: DXS8378, DXS9902, DXS7132, DXS9898, DXS6809, DXS6789, DXS7133, GATA172D05, GATA31E08, and DXS7423. Using this X-decaplex, each 17 of the participating laboratories typed a population sample of approximately 200 unrelated individuals (100 males and 100 females). In this work, we report the allele frequencies for the ten X-STRs in 15 samples from Argentina (Buenos Aires, Córdoba, Río Negro, Entre Ríos, and Misiones), Brazil (São Paulo, Rio de Janeiro, Paraná, and Mato Grosso do Sul), Colombia (Antioquia), Costa Rica, Portugal (Northern and Central regions), and Spain (Galicia and Cantabria). Gene diversities were calculated for the ten markers in each population and all values were above 56%. The average diversity per locus varied between 66%, for DXS7133, and 82%, for DXS6809. For this set of STRs, a high discrimination power was obtained in all populations, both in males (> or =1 in 5 x 10(5)) and females (> or =1 in 3 x 10(9)), as well as high mean exclusion chance in father/daughter duos (> or =99.953%) and in father/mother/daughter trios (> or =99.999%). Genetic distance analysis showed no significant differences between northern and central Portugal or between the two Spanish samples from Galicia and Cantabria. Inside Brazil, significant differences were found between Rio de Janeiro and the other three populations, as well as between São Paulo and Paraná. For the five Argentinean samples, significant distances were only observed when comparing Misiones with Entre Ríos and with Río Negro, the only two samples that do not differ significantly from Costa Rica. Antioquia differed from all other samples, except the one from Río Negro.
Assuntos
Alelos , Cromossomos Humanos X/genética , Impressões Digitais de DNA , Etnicidade/genética , Genética Populacional , Cooperação Internacional , Repetições de Microssatélites/genética , Reação em Cadeia da Polimerase/métodos , Mapeamento Cromossômico , Costa Rica , Análise Mutacional de DNA , Feminino , Frequência do Gene/genética , Deriva Genética , Marcadores Genéticos/genética , Variação Genética/genética , Humanos , Desequilíbrio de Ligação/genética , Masculino , Portugal , Controle de Qualidade , América do Sul , EspanhaRESUMO
POPULATION: A total of 184 healthy unrelated individuals (70 females and 114 males), autochthonous from Santa Catarina, Brazil.
Assuntos
Cromossomos Humanos X , Genética Populacional , Sequências de Repetição em Tandem , Brasil , Impressões Digitais de DNA , Feminino , Frequência do Gene , Humanos , Masculino , Reação em Cadeia da PolimeraseRESUMO
Allele frequencies and haplotypes of eight Y-chromosomal short tandem repeats (STRs), DYS19, DYS385, DYS389 I, DYS389 II, DYS390, DYS391, DYS392 and DYS393 were determined in a sample of 109 males from Santa Catarina. The origin of this southern Brazilian population is mainly from Portuguese people, namely from Azores archipelago.