RESUMO
The Investigator DIPplex(®) kit (Qiagen) contain components for the simultaneous amplification and analysis of 30 biallelic autosomal INDELs and amelogenin. The objective of this study was to estimate the diversity of the 30 markers in Polish (N P = 122) and Taiwanese (N T = 126) population samples and to evaluate their usefulness in forensic genetics. All amplicon lengths were shorter than 160 base pairs. The DIPplex genotype distributions showed no significant deviation from Hardy-Weinberg rule expectations (Bonferroni corrected) except for DLH39 in the Taiwanese population. Among the Poles and the Taiwanese the mean observed heterozygosity values are 0.4385 and 0.4079, and the combined matching probability values are 7.98 × 10(-14) and 1.22 × 10(-11), respectively. The investigated marker set has been confirmed as a potential extension to standard short tandem repeat-based kits or a separate informative system for individual identification and kinship analysis. Eight INDELs have been selected as possible ancestry informative single-nucleotide polymorphisms for further analyses.
Assuntos
Povo Asiático/genética , Genética Populacional , Mutação INDEL , População Branca/genética , Amelogenina/genética , Genética Forense , Genótipo , Humanos , Polônia , Polimorfismo de Nucleotídeo Único , TaiwanRESUMO
The aim of our study was to establish the genetic differentiation of the population of the province of Wielkopolska (Greater Poland) for 17 Y-STRs and 8 Y-SNPs and comparison of the Polish population with other selected populations. The investigations included 201 unrelated male inhabitants of the Greater Poland region We found 184 unique haplotypes for 17 Y-STR. The haplotype discrimination capacity was 0.96. The most frequent haplotype Ht-50 was found in 3 samples and 7 haplotypes observed twice. Further, the same samples were analyzed with Y-8 SNPs markers. We obtained 40 haplotypes. The haplotype discrimination capacity was 0.20. The most frequent haplotype was presented in 38 samples. A total of 4 different haplogroups were established. Haplogroup K= 19%, IJ = 7%, R1a1 = 59% and R1b = 15%. The HD value of Y-SNPs/Y-STRs was 0.9883.
Assuntos
Cromossomos Humanos Y/genética , Impressões Digitais de DNA/métodos , Genes Ligados ao Cromossomo Y/genética , Haplótipos/genética , Polimorfismo de Nucleotídeo Único/genética , População Branca/genética , Adulto , Mapeamento Cromossômico , Bases de Dados Genéticas , Frequência do Gene , Genética Populacional/estatística & dados numéricos , Humanos , Masculino , PolôniaRESUMO
(1) Background: Insertion-deletion (InDel) markers show the advantages of both short tandem repeats (STRs) and single nucleotide polymorphisms (SNPs) and are considered alternative markers in forensic genetics. (2) Methods: Allelic frequencies and corresponding forensic efficiency parameters of 30 autosomal polymorphic InDel loci included in the Investigator DIPplex kit (Qiagen) were obtained in a sample of 631 unrelated Polish individuals. Allelic frequency data were compared with those reported for selected populations (3) Results: All the loci conformed with Hardy-Weinberg equilibrium after applying a Bonferroni correction and no pair-wise significant linkage disequilibrium was detected. (4) Conclusions: DIPplex Kit differences were high among populations worldwide. The InDel markers are highly discriminating for human identification purposes in the Polish population.
Assuntos
Genética Populacional , Mutação INDEL , Humanos , Polônia , Frequência do Gene/genética , Polimorfismo de Nucleotídeo Único/genéticaRESUMO
The study presents the results obtained by LightSNiP method with the use of 2 SNPs located on Y chromosome. The purpose of this study was examination of the mixture of the genetic material in the form of male and female blood in different dilutions. The size of available STR-PCR markers is between 100 and 500 bp, which can limit the possibility of DNA mixture analysis, where the amount of male DNA is relatively low or the genetic material is markedly degraded. Selection of appropriate SNPs placed on Y chromosome can provide information that will facilitate interpretation of the female and male DNA mixture. The test was performed on a Light Cycler 2.0, Roche Diagnostic.
Assuntos
Cromossomos Humanos Y/genética , Impressões Digitais de DNA/métodos , Genética Forense/métodos , Repetições de Microssatélites/genética , Polimorfismo de Nucleotídeo Único/genética , Sequências de Repetição em Tandem/genética , Manchas de Sangue , DNA/sangue , Feminino , Humanos , Masculino , Polônia , Reação em Cadeia da Polimerase/métodos , Sensibilidade e EspecificidadeRESUMO
The article presents the results of experimental DNA examinations of a mummified body, which is kept in the Forensic Department Museum of Poznan University of Medical Sciences. The DNA analysis determined the gender of the mummy as male; the body was found to belong to the Y-chromosome haplogroups R1b and J2. The age of the mummified body was estimated by an anthropological examination as approximately 35 years.