RESUMO
Seventeen autosomal STRs were analyzed (D2S1338, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D19S433, D21S11, CSF1PO, FGA, TH01, TPOX, vWA, Penta D, and Penta E) in the Lebanese population. A total of 192 unrelated individuals were genotyped for the 15 autosomal STRs in the Promega PowerPlex 16 STR kit. An additional 275 unrelated individuals were genotyped for the Applied Biosystems AmpFlSTR Identifiler and SGM+STR kits. Allele frequencies for the shared CODIS 13 loci among the three STR kits tested were not significantly different among individuals within the Lebanese population. Forensic and population genetic parameters for the 17 loci were calculated. We also compared the allele frequencies from this population with other populations in the same geographic vicinity.
Assuntos
Frequência do Gene/genética , Marcadores Genéticos/genética , Genética Populacional , Variação Genética , Genótipo , Humanos , Líbano , Repetições de Microssatélites , Reação em Cadeia da PolimeraseRESUMO
Seventeen Y STR loci were typed in a population sample of 191 unrelated male individuals from Northern Greece. Haplotypes are presented for the following loci: DYS456, DYS389I, DYS390, DYS389II, DYS458, DYS19, DYS385a/b, DYS393, DYS391, DYS439, DYS635, DYS392, Y GATA H4, DYS437, DYS438 and DYS448. The overall haplotype diversity was 0.9992. This database study provides significant additional information for the application of Y-chromosomal STRs to forensic identification efforts in Greece by nearly doubling both the number of individuals and the number of Y-loci typed from Greek populations. These samples have been previously typed for autosomal STRs [L. Kovatsi, T.J. Parsons, R.S. Just, J.A. Irwin, Genetic variation for 15 autosomal STR loci (PowerPlex 16) in a population sample from northern Greece, Forensic Sci. Int. 159 (2006) 61-63] and the mitochondrial DNA control region [J. Irwin, J. Saunier, K. Strouss, C. Paintner, T. Diegoli, K. Sturk, L. Kovatsi, A. Brandstatter, M.A. Cariolou, W. Parson, T.J. Parsons, Mitochondrial control region sequences from northern Greece and Greek Cypriots, Int. J. Legal Med. 122 (2008) 87-89].
Assuntos
Cromossomos Humanos Y , Genética Populacional , Sequências de Repetição em Tandem , Impressões Digitais de DNA , Frequência do Gene , Grécia , Haplótipos , Humanos , Masculino , Reação em Cadeia da PolimeraseRESUMO
Entire mitochondrial control region data were generated for 248 African American individuals, which had been previously typed for 15 autosomal STRs [J.M. Butler, R. Schoske, P.M. Vallone, J.W. Redman, M.C. Kline, Allele frequencies for 15 autosomal STR loci on U.S. Caucasian, African American, and Hispanic populations, J. Forensic Sci. 48 (2003) 908-911].
Assuntos
População Negra/genética , DNA Mitocondrial/genética , Impressões Digitais de DNA , Genética Populacional , Haplótipos , Humanos , Reação em Cadeia da Polimerase , Análise de Sequência de DNA , Estados UnidosRESUMO
Entire mitochondrial control region sequences were generated from 377 unrelated individuals from urban Hong Kong. In line with other control region datasets from China, the sample from Hong Kong exhibited significant genetic diversity that was reflected in a random match probability of 0.19% and a mean pairwise difference of 13.14. A total of 305 haplotypes were identified, of which 262 were unique. These sequences will be made publicly available to serve as forensic mtDNA reference data for China.
Assuntos
DNA Mitocondrial/genética , Variação Genética , Genética Populacional , China , Genética Forense/métodos , Haplótipos , Hong Kong , Humanos , Padrões de Referência , Análise de Sequência de DNA , População UrbanaRESUMO
Instances of point and length heteroplasmy in the mitochondrial DNA control region were compiled and analyzed from over 5,000 global human population samples. These data represent observations from a large and broad population sample, representing nearly 20 global populations. As expected, length heteroplasmy was frequently observed in the HVI, HVII and HVIII C-stretches. Length heteroplasmy was also observed in the AC dinucleotide repeat region, as well as other locations. Point heteroplasmy was detected in approximately 6% of all samples, and while the vast majority of heteroplasmic samples comprised two molecules differing at a single position, samples exhibiting two and three mixed positions were also observed in this data set. In general, the sites at which heteroplasmy was most commonly observed correlated with reported control region mutational hotspots. However, for some sites, observations of heteroplasmy did not mirror established mutation rate data, suggesting the action of other mechanisms, both selective and neutral. Interestingly, these data indicate that the frequency of heteroplasmy differs between particular populations, perhaps reflecting variable mutation rates among different mtDNA lineages and/or artifacts of particular population groups. The results presented here contribute to our general understanding of mitochondrial DNA control region heteroplasmy and provide additional empirical information on the mechanisms contributing to mtDNA control region mutation and evolution.
Assuntos
DNA Mitocondrial/genética , Genética Populacional , Região de Controle de Locus Gênico/genética , Polimorfismo Genético , Sequência de Bases , Coleta de Amostras Sanguíneas , Humanos , Mutação/genética , Reprodutibilidade dos TestesRESUMO
Entire mitochondrial control region data was generated for 277 unrelated Egyptian individuals. High-throughput robotics, a redundant sequencing approach, and several quality control checks were implemented to generate a high-quality database. The data presented here will augment the limited Egyptian mtDNA reference data currently available for forensic comparisons.
Assuntos
DNA Mitocondrial/genética , Genética Populacional , Região de Controle de Locus Gênico/genética , Sangue , DNA/genética , DNA/isolamento & purificação , Egito , Variação Genética , Geografia , Haplótipos , Humanos , Mitocôndrias/genética , Técnicas de Amplificação de Ácido Nucleico , Reação em Cadeia da Polimerase , Controle de Qualidade , Robótica , Análise de Sequência de DNARESUMO
Entire mitochondrial control region data was generated for 128 "Hispanics" from the United States. These samples have been previously typed for 15 autosomal STRs [J.M. Butler, R. Schoske, P.M. Vallone, J.W. Redman, M.C. Kline, Allele frequencies for 15 autosomal STR loci on U.S. Caucasian, African American, and Hispanic populations, J. Forensic Sci. 48 (2003) 908-911]. High-throughput robotics, a redundant sequencing approach, and several quality control checks were implemented to generate a high-quality database. The data presented here will augment Hispanic reference data available for forensic mtDNA comparisons.
Assuntos
DNA Mitocondrial/genética , Genética Populacional , Hispânico ou Latino/genética , População Negra/genética , População Negra/estatística & dados numéricos , DNA/genética , DNA/isolamento & purificação , Impressões Digitais de DNA/métodos , Bases de Dados como Assunto , Genética Forense , Variação Genética , Haplótipos , Humanos , Indígenas Norte-Americanos/genética , Indígenas Norte-Americanos/estatística & dados numéricos , Técnicas de Amplificação de Ácido Nucleico , Reação em Cadeia da Polimerase , Polimorfismo Genético , Controle de Qualidade , Padrões de Referência , Robótica , Software , Estados Unidos , População Branca/genética , População Branca/estatística & dados numéricosRESUMO
Entire mitochondrial genome (mtGenome) sequences of 265 unrelated African American and U.S. "Hispanic" individuals were generated.
Assuntos
Negro ou Afro-Americano/genética , Impressões Digitais de DNA/métodos , DNA Mitocondrial/genética , Genoma Humano , Hispânico ou Latino/genética , Bases de Dados Genéticas , Haplótipos , Humanos , Reação em Cadeia da Polimerase , Controle de Qualidade , Estados UnidosRESUMO
Entire mitochondrial control region data were generated for 187 individuals from Vietnam. These samples have been previously typed for 16 autosomal short-tandem repeats (STRs) [1].
Assuntos
DNA Mitocondrial/genética , Genética Populacional , Haplótipos , Análise de Sequência de DNA , Impressões Digitais de DNA , Humanos , Reação em Cadeia da Polimerase , Polimorfismo Genético , VietnãRESUMO
In an effort to increase the quantity, breadth and availability of mtDNA databases suitable for forensic comparisons, we have developed a high-throughput process to generate approximately 5000 control region sequences per year from regional US populations, global populations from which the current US population is derived and global populations currently under-represented in available forensic databases. The system utilizes robotic instrumentation for all laboratory steps from pre-extraction through sequence detection, and a rigorous eight-step, multi-laboratory data review process with entirely electronic data transfer. Over the past 3 years, nearly 10,000 control region sequences have been generated using this approach. These data are being made publicly available and should further address the need for consistent, high-quality mtDNA databases for forensic testing.
Assuntos
DNA Mitocondrial/genética , Bases de Dados de Ácidos Nucleicos , Genética Forense/estatística & dados numéricos , Sequência de Bases , Primers do DNA/genética , DNA Mitocondrial/isolamento & purificação , Etnicidade/genética , Genética Populacional , Haplótipos , Humanos , Robótica/instrumentação , Estados UnidosRESUMO
The utility of mtDNA in forensic identifications is limited by its low power of discrimination and the absence of high quality mtDNA databases. Single nucleotide polymorphisms (SNPs) in the control region outside of hypervariable regions I and II (HVI/HVII), and in the coding region of the mtDNA genome, can provide additional discrimination in mtDNA testing. We have identified particularly useful SNP sites via high throughput sequencing of the entire mtDNA genome. We report here two cases in which an 11-plex SNP assay (panel "A") targeting the most common HVI/HVII type successfully resolved two cases in which identifications could not be made on the basis of HVI/HVII sequencing. Additionally, we established a database of 286 samples for SNP panel "A" generated with robotic protocols. We have addressed the need for high quality mtDNA control region (CR) databases by developing robotic protocols for lab processing, and a carefully devised electronic data review process. A large-scale databasing effort targeting several populations underrepresented in current mtDNA databases is underway.
