RESUMO
The study of X-chromosomal short tandem repeats (X-STRs) can complement data obtained with autosomal and Y-STRs. This population study only concerns two X-STRs in order to add complementary data obtained with other X-STRs already studied by our laboratory. DXS9895 and DXS7130 were used to study a population sample of North of Portugal (101 female and 118 male samples). DNA was amplified in a multiplex reaction mix and the automatic detection was performed using capillary electrophoresis. Allele frequencies and several forensic parameters were calculated.
Assuntos
Cromossomos Humanos X , Genética Populacional , Sequências de Repetição em Tandem , Impressões Digitais de DNA , Eletroforese Capilar , Feminino , Frequência do Gene , Humanos , Masculino , Reação em Cadeia da Polimerase , PortugalRESUMO
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
The past two decades have seen an explosion in research in the fields of violence and behavioural genetics. Advances in human genetics have raised the possibility that genetic mechanisms can explain various aspects of human criminal and aggressive behaviour. However, this new knowledge can pose enormous challenges concerning the moral and legal conceptions of free will and responsibility. This paper reviews the main aspects of behavioural genetics, focusing on criminal and aggressive behaviour and describes the most important genes known to influence this behaviour.
Assuntos
Genética Comportamental , Violência , Genética Forense , Humanos , Monoaminoxidase/genética , Locos de Características Quantitativas/genética , Receptores de Serotonina/genética , Proteínas da Membrana Plasmática de Transporte de Serotonina/genéticaAssuntos
Frequência do Gene/genética , Genética Médica , Repetições de Microssatélites/genética , Grupos Populacionais/genética , Pareamento de Bases/genética , Mapeamento Cromossômico , DNA/genética , Humanos , Técnicas de Amplificação de Ácido Nucleico , Reação em Cadeia da Polimerase/métodos , PortugalRESUMO
A collaborative work was carried out by the Spanish and Portuguese International Society for Forensic Genetics Working Group in order to extend the existing data on Y-short tandem repeat (STR) mutations at the 17 Y chromosome STR loci included in the AmpFlSTR YFiler kit (Applied Biosystems): DYS19, DYS385, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, and GATA H4.1. In a sample of 701 father/son pairs, 26 mutations were observed among 11,917 allele transfers across the 17 loci. After summing previously reported mutation data with our sample, mutation rates varied between 4.25 x 10(-4) (95% CI 0.05 x 10(-3)-1.53 x 10(-3)) at DYS438 and 6.36 x 10(-3) (95% CI 2.75 x 10(-3)-12.49 x 10(-3)) at DYS458. All mutations were single step, and mutations in the same father/son pair were found twice.