RESUMO
Some emerging technologies are used as strategies for the analyses of single nucleotide polymorphisms (SNPs) that have attracted much interest in recent years, applied to various scientific areas. They have been extensively used as markers to identify genes that underlie complex diseases and also to realize the potential of pharmacogenomics in relation to different drug responses. Additionally, SNPs have been shown to be very useful in forensic genetics resolving all kinds of legal problems, namely crime cases, disaster victim identification and paternity and kinship investigation testing. The low mutation rate of SNPs, makes these markers very suitable for relationship testing. In the great majority of the cases, analyses with the widely used sets of STR markers provide powerful statistical evidence but some of them remain with ambiguous results. Those include cases with complex pedigrees or cases with some problems, like mutations, that are inherent to the use of STRs. At this time several forensic laboratories are using SNPs especially to complement the study of STRs in some of their casework cases. This paper intends to analyze some of our casework examples and to providea data update on the joint use of STRs and autosomal SNPs in the evaluation and kinship calculation, one of the strategies currently used for this purpose, namely reviewing and comparing results published by various working groups.
Assuntos
Impressões Digitais de DNA/métodos , Genética Forense/métodos , Frequência do Gene , Polimorfismo de Nucleotídeo Único , Humanos , Paternidade , IrmãosRESUMO
POPULATION: One hundred unrelated females and 100 unrelated males, autochthonous, healthy, from the North of Portugal.
Assuntos
Cromossomos Humanos X , Genética Populacional , Sequências de Repetição em Tandem , Impressões Digitais de DNA , Feminino , Frequência do Gene , Humanos , Masculino , Reação em Cadeia da Polimerase , PortugalRESUMO
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 of sixteen autossomal short tandem repeats (STRs), D3S1358, VWA, D16S539, D8S1179, D21S11, D18S51, TH01, FGA, D5S818, D13S317, D7S820, TPOX, CSF1PO, Penta D, Penta E (included in the PowerPlex 16 kit), and the SE33 (PowerPlex ES Monoplex System SE33) were determined in a sample of 200 healthy unrelated individuals from the north of Portugal.
Assuntos
Frequência do Gene , Genética Populacional , Sequências de Repetição em Tandem , Impressões Digitais de DNA/métodos , Humanos , Reação em Cadeia da Polimerase , 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.