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1.
Forensic Sci Int Genet ; 2(1): 69-74, 2008 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-19083792

RESUMO

The evaluation of four pairs of X-chromosomal short tandem repeats (STRs), i.e. DXS10135-DXS8378, DXS7132-DXS10074, HPRTB-DXS10101 and DXS7423-DXS10134 was carried out using the Argus X-8 Multiplex amplification kit. These eight STRs are distributed as four closely linked pairs over the entire X-chromosome (ChrX), and for practical reasons they are assigned to four linkage groups 1-4. The genetic distance within the STR pairs is assumed to be <1cM, whereas the pair to pair space is about 50 cM or more. Here, we present single STR allele frequencies, haplotype frequencies of the respective STR pairs and further population genetic parameters of forensic interest. Most data refer to a German population, however small samples from Ghana and Japan were also investigated. Furthermore, sequencing of all STR loci displayed the presence of microvariant alleles and variations in the repeat flanking region. A total of 350 meioses investigated here revealed only one sperm DXS7132 mutation. For analysis of linkages within the STR pairs a study involving 104 female meiosis with respect to recombination events was performed. The STR panel presented here provides a powerful tool for solving complex kinship in the case that X-chromosomal lineages can be taken under investigation.


Assuntos
Cromossomos Humanos X , Genética Populacional , Repetições de Microssatélites , Técnicas de Amplificação de Ácido Nucleico/métodos , Reação em Cadeia da Polimerase/métodos , Alelos , Criança , Impressões Digitais de DNA/métodos , Feminino , Frequência do Gene , Ligação Genética , Alemanha , Gana , Haplótipos , Humanos , Japão , Masculino , Linhagem , Recombinação Genética
2.
Forensic Sci Int Genet ; 1(3-4): 232-7, 2007 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19083767

RESUMO

The molecular origin of DNA mutations and the mutation rates were analyzed at 14 short tandem repeat (STR) loci with samples from trio cases derived from 10 different German population samples. STR loci comprised of D2S1360, D3S1744, D4S2366, D5S2500, D6S474, D7S1517, D8S1132, D10S2325, D12S391, D18S51, D19S246, D20S480, D21S226, and D22S689. In a total of 488 meioses, 16 isolated genetic inconsistencies in 8 different STRs were observed, whereas no mutations were found at the other loci. The data of five mutations suggested the presence of silent or null alleles due to sequence variation in primer binding site. This could be confirmed for four suspected cases by the use of alternative primer sets and by DNA sequence analyses. Furthermore, this study revealed nine new allelic variants at five different loci.


Assuntos
Genética Populacional , Repetições de Microssatélites , Mutação , Alelos , Sequência de Bases , DNA/genética , Primers do DNA/genética , Feminino , Genética Forense , Frequência do Gene , Alemanha , Humanos , Masculino
3.
Int J Legal Med ; 121(1): 78-81, 2007 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-16328421

RESUMO

Allele frequencies for the autosomal tetranucleotide short tandem repeat loci D4S2366, D6S474, D14S608, D19S246, D20S480, D21S226 and D22S689 were investigated in a sample of 189 unrelated German individuals using a multiplex polymerase chain reaction approach. The loci showed no significant deviations from Hardy-Weinberg equilibrium except for D14S608. All genotyped alleles were cloned and sequenced, and an allelic nomenclature consistent with the ISFH recommendations was defined.


Assuntos
Impressões Digitais de DNA , Repetições de Microssatélites/genética , Polimorfismo Genético/genética , População Branca/genética , Frequência do Gene , Alemanha , Humanos
4.
Anal Bioanal Chem ; 377(4): 779-83, 2003 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-12925866

RESUMO

Graz University of Technology has developed a new technique for digesting samples using the well-established high-pressure asher (HPA) from Anton Paar GmbH (Graz, Austria). The digestion is performed in semi-open vessels inside a pressurised autoclave. The new HPA equipment consists of a liner for the autoclave, special sample racks and 30-mL digestion vessels made of quartz, covered with PTFE stoppers. The Laboratory for Isotope Dilution and Nuclear Analysis of the Federal Institute for Materials Research and Testing (BAM, Berlin) tested this new equipment in order to assess its usability for the decomposition of larger sample amounts of gas oils for the measurement of sulfur. Several experiments were carried out using the new sample decomposition technique. In order to test the recovery of the new digestion method, a gas oil material with known sulfur content was chosen, quantified by the validated conventional closed vessel HPA digestion in combination with thermal ionisation mass spectrometry. Isotope dilution mass spectrometry has been applied as analytical method in this investigation. The gas oil was spiked with an isotopic spike material, which is enriched in (34)S, and was then wet digested in the HPA. The oxidized sulfur of the dried samples was reduced to H(2)S and precipitated as As(2)S(3). The sulfur was measured as arsenic monosulfide (AsS(+)). The mass content of sulfur in the gas oil tested is 453.5 mg kg(-1). Recovery tests for increasing masses of gas oils indicate that the recovery using the new measurement technique decreases with increasing mass of gas oil. Results were obtained for approximately 0.3 g sample weight and had less overlap with the result of the old HPA method within the stated uncertainties. At approximately 0.5 g sample weight the yield decreases to about 97% and at approximately 1.0 g sample weight to about 87%. In comparison with the conventional closed vessel HPA digestion, the new technique shows no clear advantages for the certification of the sulfur content in gas oil other than a more convenient handling. The total uncertainty of the sulfur mass fractions (k=2) is about 1.5%. Repeated determination of the oil samples show a relative standard deviation of about 0.8% and indicate that the analytical procedure is robust and reproducible. The demonstrated reproducibility allows the establishment of correction factors for the yield, which in turn enables higher sample masses for routine work. The blank level (0.26 x 10(-6) g) was within the range of the conventional closed HPA digestion procedure.(0.28 x 10(-6) g). Cross contamination could not be detected. In terms of trace metal analysis a good applicability and more advantages over the conventional closed vessel HPA digestion can be assumed.

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