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Allele frequencies, forensic parameters for the 11 STR loci (TH01, TPOX, CSF1PO, D13S317, D7S820, D16S539, VWA, FESFPS, F13A01, F13B and LPL) were determined in a sample of 140-1262 unrelated adults from the Upper Silesia region (Poland). Comparison of allele frequencies for examined STR loci between the Upper Silesia population and other Polish and European populations was carried out.
Haplotypes and allele frequencies of 12 STR loci included in the PowerPlex Y system (DYS391, DYS389I, DYS439, DYS389II, DYS438, DYS437, DYS19, DYS392, DYS393, DYS390, and DYS385a/b) were obtained from a sample of 569 unrelated individuals living in the central region of Korea. A total of 473 haplotypes were observed in the 569 individuals studied, of which 426 (90.06%) were unique. The overall haplotype diversity for the 12 Y-STR loci was 0.9985, and the discrimination capacity was 0.8313. In DYS439, we found a new intermediate-sized allele that added an A at base 3 upstream from the repeat region's first GATA motif. The allele was named 11 (U3Ains) according to its sequence structure.
Allele frequency data for 15 Short Tandem Repeat (STR) loci included in the AmpFl STR Identifiler kit were obtained from a sample of 196 healthy unrelated individuals of Tibetan born in Lassa of Tibet Autonomy Region of China (SW China). The distribution of these observed genotypes were not significantly different from the expected distribution according to Hardy-Weinberg equilibrium.
The allelic distribution of 15 short tandem repeat (STR) loci included in the AmpFl STR Identifiler kit was examined in 100 Changdu Tibetan and 118 Naqu Tibetan unrelated individuals living in the Tibet Province, PR China. The distribution of these observed genotypes was not significantly different from the expected distribution according to Hardy-Weinberg equilibrium.
We have analysed 13 autosomal STR loci in four endogamous tribal populations from two eastern states (Orissa and Nagaland) of India. The Gadaba, Kuvi Khond and Lotha Naga populations have not been analysed for microsatellite genetic variation previously. The allele frequencies for all loci are within the range observed in the geographical region and racial background, though some alleles showed greater variation. Departures from the Hardy-Weinberg equilibrium were tested by three methods and two loci (THO1 and TPOX) showed significant departures for all measures in Gadaba and Lotha Naga populations. The exclusion probability and discrimination probability were high for all analysed loci in all populations. There is no evidence for association of alleles among the STR loci studied. This allele frequency information will be useful for forensic, paternity and population genetic studies.
Allele frequencies of the STR loci included in the AmpFlSTR SGM Plus kit were determined in 1000 unrelated individuals from all regions of Norway. For the 10 autosomal STR loci the observed heterozygosity frequencies ranged from 0.766 (D16S539) to 0.885 (D2S1338). No significant deviation from Hardy-Weinberg equilibrium was observed. The exact test disequilibrium analysis revealed one departure from independence out of 45 pairwise comparisons. Calculations of theta coefficients for all 10 loci in two additional subpopulations of different geographical origin revealed an overall value of theta=0.002.
Twenty-six Y-chromosomal short tandem repeat (STR) loci were amplified in a sample of 769 unrelated males from Nepal, using two multiplex polymerase chain reaction (PCR) assays. The 26 loci gave a discriminating power of 0.997, with 59% unique haplotypes, and the highest frequency haplotype occurring 12 times. We identified novel alleles at four loci, microvariants at a further two, and nine examples of amelogenin-Y deletions (1.2%). Comparison with a similarly sized Bhutanese sample typed with the same markers suggested histories of isolation and drift, with drift having a greater effect in Bhutan. Extended (11-locus) haplotypes for the Nepalese samples have been submitted to the Y-STR Haplotype Reference Database (YHRD).
Nine Y chromosome short tandem repeat (STR) loci (DYS19, DYS385, DYS389I, DYS389II, DYS390, DYS391, DYS392 and DYS393) were analyzed in group of 237 unrelated healthy males from population of Serbia and Montenegro in order to assess the frequencies of Y haplotypes. We observed 174 different haplotypes of which 146 (61.6%) were seen only once. Y-STR allelic frequencies in Serbia and Montenegro, in general, correspond to other European populations, except for the DYS19, DYS385 and DYS389II loci.
Knowledge about mutation rates and the mutational process of short-tandem-repeat (STR) or microsatellite loci used in forensic analysis is crucial for the correct interpretation of resulting genetic profiles. We analysed a total of 19,754 samples from 6532 paternity testing cases at 17 STR loci which are commonly applied to forensics. The parenthood in each of these cases was highly validated (probability>99.99%). We identified 178 mutations. Locus-specific mutation rate estimates varied between 7.0 x 10(-5) and 2.2 x 10(-3), and the overall average mutation rate estimate was 8.4 x 10(-4). The observed mutational features for STRs have important consequences for forensic application such as the definition of criterions for exclusion in paternity testing and the interpretation of DNA profiles in identification analysis. In order to enrich the reference data of STRs mutations which are valuable for forensic application, we suggest the establishment of such database and ask the whole forensic community for data contribution including China.
In this research, the allelic distribution of 15 tetrameric short tandem repeats (STR) loci (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818, FGA) were obtained from 167 Mulao and 108 Maonan unrelated individuals. The Genepop v3.4 and the PowerStats v1.2 were used to perform statistical tests and to calculate the forensic parameters. All loci of the two populations showed no significant deviation from Hardy-Weinberg equilibrium. The results showed the 15 STR loci of the two populations have a high degree of genetic polymorphism.
Recently, different work groups have demonstrated that short tandem repeat (STR) typing of various tumor tissues may lead to erroneous results due to tumor microsatellite instability (MSI). This may have considerable implications for genetic profiling of tumor tissue, e.g. in paternity testing or sample individualization. To elucidate whether this is true for ductal adenocarcinomas (DAC) of the pancreas, we genetically investigated tumor and corresponding healthy tissue from 18 patients using a commercially available multiplex PCR kit commonly used in forensic laboratories. STR typing of the samples revealed no differences between tumor and healthy tissue in 17 out of 18 samples. One sample, however, showed an allele expansion at locus D21S11. In heterozygous cases, peak heights varied strongly at different loci, mocking a loss of heterozygozity. This investigation shows that even though tetranucleotide MSI in pancreatic DAC is a rare event, the interpretation of genetic profiles obtained from cancerous samples can be difficult and lead to misinterpretations.
In this study, allelic frequencies of the CODIS core short tandem repeat (STR) loci were estimated in a population sample consisting in 101 unrelated healthy autochthonous individuals from the Basque province of Alava (Northern Spain). Frequency distributions for all 13 STR loci were obtained using the AmpFlSTR Profiler Plus and AmpFlSTR COfiler amplification kits. The allelic frequencies generated were employed to calculate genetic and forensic useful parameters.
Allele frequencies and haplotypes for 10 Y-chromosome STR loci, DYS19, DYS385, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS438 and DY439, were determined in 72 unrelated Bangladeshi males using Y-PLEX5 and Y-PLEX6 Amplification Kits. This population demonstrated 71 haplotypes, of which 70 were unique. The haplotype diversity calculated from the 10 Y-STR loci was 0.9996 and the discrimination capacity was 0.9861.
Allele frequencies of 15 short tandem repeat (STR) loci, D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818 and FGA, were analyzed in 127 unrelated Bangladeshi individuals and 105 unrelated Indonesian individuals using the AmpFLSTR Identifiler kit. All STR loci in Bangladeshis and Indonesians were in the Hardy-Weinberg equilibrium.
Nine STR loci (D3S1358, D5S818, D7S820, D8S1179, D13S317, TH01, VWA, TPOX, LPL) were studied in a large Northern Thai population sample. All loci meet Hardy-Weinberg expectations. The combined power of discrimination and exclusion is 0.9999999979 and 0.99798 respectively. Mutation rates for STR loci did not exceed 1-4 per 1000 parent/child pairs as derived from disputed paternity cases. Similar mutation rates were also reported from other populations. No mutations were found for D5S818, D7S820, TH01, and TPOX.
Fifteen autosomal STRs loci were analyzed from two samples of 178 healthy unrelated autochthonous individuals of Chinese Dongxiang and Salar ethnic minority groups using a multiplex PCR system. Allele frequencies distribution and statistical parameters for all STR loci, D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, vWA, TPOX, D18S51, D5S818 and FGA, were determined by the AmpFISTR Identifiler Kit. The observed genotype frequencies and expected of genotype frequencies were evaluated by chi(2)-test and the Fisher exact tests. chi(2)-test showed that the agreement with Hardy-Weinberg equilibrium (p>0.05) was for all studied STR loci of two populations. The data in the present study can be used greatly for routine forensic application in the region, and enrich Chinese ethnical genetic informational resources.
Allele frequencies and haplotypes for 16 Y-chromosome STR loci, DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, Y GATA H4, and DYS385a/b, were determined in 161 unrelated Japanese males using AmpFlSTR Yfiler PCR Amplification Kit. This population was demonstrated 153 haploytpes, of which 146 were unique, six were found in two individuals, and one was found in three individuals. The haplotypes diversity calculated from the 16 Y-STR loci was 0.9994 and the discrimination capacity was 0.9503.
A study of the ability of His6-tagged ribosomal protein S7 of Thermus thermophilus to interact with the truncated S12-S7 intercistronic region of str mRNA of Escherichia coli has been described. A minimal S7 binding mRNA fragment is a part of the composite hairpin, with the termination codon of the S12 cistron on one side and the initiation codon of the next S7 cistron on the other. It has a length in the range of 63-103 nucleotides. The 63 nucleotide mRNA fragment, which corresponds to a putative S7 binding site, binds very poorly with S7. Tight RNA structure models, which behave as integral systems and link the S7 binding site with the translational regulation region of the hairpin, are suggested. This observation provides more insight into the mechanism of S7-directed autogenous control of translational coupling of str mRNA.