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At least 451 records · Page 25Linked to original sources
PubMed1994

Population data and forensic efficiency values for the STR systems HumVWA, HumMBP and HumFABP.

Population studies were carried out on Caucasians from north-west Germany using the short tandem repeat (STR) systems HumVWA (locus: 12p12-12pter), HumMBP (locus: 18q23-pter) and HumFABP (locus: 4q28-q31). After electrophoresis 9 alleles could be identified for HumVWA in a sample size of 321 unrelated individuals and 4 alleles were found for HumFABP in 106 individuals. For HumMBP-A 10 alleles and for HumMBP-B 7 alleles and 1 intermediate allele were determined in a sample size of 143 individuals. No deviations from Hardy-Weinberg equilibrium could be observed. In a small family study (HumVWA-n = 129; HumMBP-n = 59; HumFABP-n = 48) no new mutations could be found for HumMBP-A and HumFABP whereas 2 mutations were found in HumMBP-B and one mutation in HumVWA. Positive results could be obtained from 1 ng-20 pg (HumVWA, HumFABP) and 1 ng-100 pg (HumMBP) template DNA.

Alleles↗
PubMed1995

Population genetic study from the Zagreb area using 3 STR systems.

Population genetic studies were carried out on Caucasians from north-west Croatia (Zagreb-area) using the short tandem repeat (STR) systems HumTHO1, HumVWA and HumACTBP2. After electrophoresis in PAG, 6 alleles could be identified for HumTHO1 in a sample size of 100 unrelated individuals and 7 alleles were found for VWA. For ACTBP2, 25 alleles have been identified. No significant deviations from Hardy-Weinberg equilibrium could be observed.

Alleles↗
PubMed1995

A Dutch population study of the STR Loci HUMTHO1, HUMFES/FPS, HUMVWA31/1 and HUMF13A1, conducted for forensic purposes.

We report on a Dutch population study of the STR loci HUMTHO1, HUMFES/FPS, HUMVWA31/1, and HUMF13A1, in which we used multiplex amplification and automated fragment detection. Genotype and allele frequencies showed no deviation from Hardy-Weinberg and linkage equilibrium. The improved Bonferroni procedure was used to combine the results of several tests. The power of discrimination of a complete profile exceeded 0.9998. We compared the allele frequencies in the Dutch sample to the frequencies in other populations using a bipilot to visualize alleles and populations simultaneously. The Dutch sample was similar to most other Caucasian samples. The data demonstrate that the genetic systems in this report are a valuable tool for forensic identity testing in The Netherlands.

Ethnicity↗
PubMed1995

The STR system hTPO: population and segregation data.

A population study was carried out on a random sample of 164 individuals from North Portugal using the short tandem repeat (STR) system hTPO (locus: 2p23-2pter). After electrophoresis, 7 alleles were identified of which 6 had been previously described and a new one, estimated to be 134 bp long. The observed genotype distribution is in Hardy-Weinberg equilibrium. In order to assess the forensic applicability of the system, namely for paternity investigations, 109 mother-child pairs were analysed. No exclusions were found and the observed distribution did not deviate from the expected. Since hTPO has a relatively high information content (PIC = 0.60; H = 0.65) this system can be very useful in paternity investigations.

Blood↗
PubMed1995

Hungarian population data for the STR systems TH01 and VWA.

Population data studies for TH01 and VWA were carried out on a Hungarian caucasian population sample of 244 unrelated individuals. We found 7 and 8 different alleles for TH01 and VWA, respectively. Using a high resolution/non-denaturing horizontal PAGE system no variations in the mobility of alleles were detected except for the allele 14 in VWA. The allele frequencies observed are similar to those reported in the literature for European caucasians. The genotype distributions meet Hardy-Weinberg expectations for both STR systems.

Alleles↗
PubMed1991

Phylogenetic depth of Thermotoga maritima inferred from analysis of the fus gene: amino acid sequence of elongation factor G and organization of the Thermotoga str operon.

The gene (fus) coding for elongation factor G (EF-G) of the extremely thermophilic eubacterium Thermotoga maritima was identified and sequenced. The EF-G coding sequence (2046 bp) was found to lie in an operon-like structure between the ribosomal protein S7 gene (rpsG) and the elongation factor Tu (EF-Tu) gene (tuf). The rpsG, fus, and tuf genes follow each other immediately in that order, which corresponds to the order of the homologous genes in the str operon of Escherichia coli. The derived amino acid sequence of the EF-G protein (682 residues) was aligned with the homologous sequences of other eubacteria, eukaryotes (hamster), and archaebacteria (Methanococcus vannielii). Unrooted phylogenetic dendrograms, obtained both from the amino acid and the nucleotide sequence alignments, using a variety of methods, lend further support to the notion that the (present) root of the (eu)bacterial tree lies between Thermotoga and the other bacterial lineages.

Amino Acid Sequence↗
PubMed1996

Failed PCR amplifications of MBP-STR alleles due to polymorphism in the primer annealing region.

The PCR-based STR system MBP-B (myelin basic protein locus B) has been reported to exhibit a high rate of mutations. Using a newly designed pair of primers we present evidence that this is due to failed amplifications caused by a polymorphism in the annealing region of the reverse primer originally designed. With the new reverse primer described here no exclusions were found (out of 59 mother/child pairs analysed) while one was detected with the old set of primers. The results obtained with both pairs of primers in a random population sample (n = 112) from North Portugal are compared. In this sample 13 individuals typed as homozygotes with the pair of primers originally described, were found to be heterozygous when the amplifications were performed with the new reverse primer. By sequence analysis, a substitution in the reverse primer binding sequence originally described was determined. This substitution is located upstream from the repetition site and consists of G-->A transition. This variation reaches polymorphic frequency and is responsible for the relatively frequent null alleles due to failed amplifications when the previously designed primers are used.

Alleles↗
PubMed1996

The STR systems HumVWA and HumACTBP2 in a Hungarian population.

Allele frequencies of the Short tandem repeat systems HumVWA and HumACTBP2 were determined from 105 unrelated individuals from the area of Szeged, Hungary. A total of 8 alleles was detected for VWA, and 23 alleles were found for ACTBP2. In both systems no deviations from Hardy-Weinberg equilibrium were observed. A comparison of the Hungarian and German frequency profiles revealed significant differences at both STR loci.

Alleles↗
PubMed1996

Allele detection and population study in Japanese using two STR loci (CYP19 and HUMTH01).

Allele fragments at two polymorphic short tandem repeat (STR) loci, CYP19 and HUMTH01, were simultaneously amplified in a sample of 200 unrelated Japanese individuals living in the Kanto area, including Tokyo. After electrophoresis in PAG, the new alleles 7, 10, 11, 12, and 13 were detected at the CYP19 locus in Japanese. HUMTH01 allele frequencies in Japanese differed greatly from those reported for Caucasians and Asians living in the US. The polymorphism information content (PIC) in Japanese was calculated as 0.46 for CYP19 and 0.66 for HUMTH01. The power of discrimination (PD) was 0.7 for CYP19 and 0.86 for HUMTH01, and the combined PD was calculated as 0.96. No significant deviations from Hardy-Weinberg equilibrium could be observed for these systems.

Alleles↗
PubMed1997

Statistical analysis of data for three British ethnic groups from a new STR multiplex.

Data have been collected from 602 Caucasians, 190 Afro-Caribbeans and 257 Asians of Indo/Pakistani descent who have been profiled using a new six locus short tandem repeat (STR) multiplex. The data have been analysed by conventional significance testing methods: the exact test, homozygosity, and conventional goodness of fit to Hardy-Weinberg proportions. Frequency tables are given and the expected performance in British forensic casework is discussed.

Chromosome Mapping↗
PubMed1997

A Dutch population study of the STR loci D21S11 and HUMFIBRA.

To introduce a duplex PCR system consisting of the STR loci D21S11 and HUMFIBRA in forensic identity testing we analysed a Dutch Caucasian database of 205 individuals. The combined power of discrimination of the two loci is 0.9978 and there was no evidence for linkage equilibrium between the two loci (p = 0.91). However, we noticed departure from Hardy-Weinberg equilibrium for the D21S11-locus in our database (p = 0.03), but the differences between observed and expected D21S11 allele pair frequencies were of negligible practical significance in forensic calculations.

Alleles↗
PubMed2004

Allelic structure and distribution of 103 STR loci in a Southern Tunisian population.

Genotypes of 103 short tandem repeat (STR) markers distributed at an average of 40 cM intervals throughout the genome were determined for 40 individuals from the village of BirEl Hfai (BEH). This village of approximately 31,000 individuals is localized in the south-west of Tunisia. The allele frequency distributions in BEH were compared with those obtained for individuals in the CEPH (Centre d'Etude du Polymorphisme Humain) data using a Kolmogorov-Smirnov two-sample test. Fourteen out of the 103 markers (13.2%) showed significant differences (P<0.05) in distribution between the two populations. Population heterogeneity in BEH was indicated by an excess of observed homozygosity deviations from Hardy-Weinberg equilibrium at three loci (P<0.0005). No evidence for genotypic disequilibrium was found for any of the marker pairs. This demonstrated that in spite of a high inbreeding level in the population, few markers showed evidence for a different pattern of allelic distribution compared to CEPH.

Alleles↗
PubMed1997

Analysis of the cluster of ribosomal protein genes in the plastid genome of a unicellular red alga Cyanidioschyzon merolae: translocation of the str cluster as an early event in the rhodophyte-chromophyte lineage of plastid evolution.

The nucleotide sequence of a cluster of ribosomal protein genes in the plastid genome of a unicellular red alga, Cyanidioschyzon merolae, which has been supposed to be the most primitive alga, was determined. The phylogenetic tree inferred from the amino acid sequence of ribosomal proteins of two rhodophytes, a chromophyte, a glaucophyte, two chlorophytes (land plants), a cyanobacterium, and three eubacteria suggested a close relationship between the cyanobacterium Synechocystis PCC6803 and the plastids of various species in the kingdom Plantae, which is consistent with the hypothesis of the endosymbiotic origin of plastids. In this tree, the two species of rhodophytes were grouped with the chromophyte, and the glaucophyte was grouped with the chlorophytes. Analysis of the organization of the genes encoding the ribosomal proteins suggested that the translocation of the str cluster occurred early in the lineage of rhodophytes and chromophytes after these groups had been separated from chlorophytes and glaucophytes.

Cyanobacteria↗
PubMed2003

Multiplex PCR design strategy used for the simultaneous amplification of 10 Y chromosome short tandem repeat (STR) loci.

The simultaneous amplification of multiple regions of a DNA template is routinely performed using the polymerase chain reaction (PCR) in a process termed multiplex PCR. A useful strategy involving the design, testing, and optimization of multiplex PCR primer mixtures will be presented. Other multiplex design protocols have focused on the testing and optimization of primers, or the use of chimeric primers. The design of primers, through the close examination of predicted DNA oligomer melting temperatures ( T(m)) and primer-dimer interactions, can reduce the amount of testing and optimization required to obtain a well-balanced set of amplicons. The testing and optimization of the multiplex PCR primer mixture constructed here revolves around varying the primer concentrations rather than testing multiple primer combinations. By solely adjusting primer concentrations, a well-balanced set of amplicons should result if the primers were designed properly. As a model system to illustrate this multiplex design protocol, a 10-loci multiplex (10plex) Y chromosome short tandem repeat (STR) assay is used.

Base Sequence↗
PubMed2002

Genetic variability at 14 STR loci in the Puna population of north western Argentina.

Frequency data of the short tandem repeat (STR) loci D3S1358, vWA, FGA, D8S1179, D21S11, D18S51, D5S818, D13S317, D7S820, HUMTH01, D4S243, D18S535, HUMF13A1 and D12S391 were determined in the Puna population (Andean region from north western Argentina). In this study, 5 out of the 14 loci did not meet Hardy-Weinberg expectations. The excess of homozygotes observed in most of the markers could be due to a Wahlund effect and/or inbreeding. The frequencies were significantly different from those of other compared populations from Europe and America. Forensic parameters indicated that the 14 loci studied in the Puna region are highly discriminating, but the lack of Hardy-Weinberg equilibrium in some of the markers must be taken into account in the application of these results to paternity and forensic casework.

Alleles↗
PubMed2002

Kurdish population data for 11 STR loci (ACTBP2, CSF1PO, FGA, TH01, TPOX, vWA, D3S1358, D5S818, D7S820, D13S317 and D21S11).

In a Kurdish population sample composed of 950 unrelated individuals from Northern Iraq, 11 tetrameric short tandem repeat (STR) loci from 10 different chromosomes (i.e., ACTBP2, CSF1PO, FGA, TH01, TPOX, vWA, D3S1358, D5S818, D7S820, D13S317 and D21S11) were typed to establish a database for immigration cases. The combined power of discrimination (PD) and the combined power of exclusion (PE) of all 11 loci were 0.99999999999994 and 0.99996, respectively.

Databases, Factual↗
PubMed2002

Canine STR analyses in forensic practice. Observation of a possible mutation in a dog hair.

In a case of the death of a 7-year-old boy, the police investigations revealed a possible dog attack contrary to the witness testimonies. DNA investigations were carried out from hairs, saliva and bloodstains with 10 canine-specific STR loci by the use of fluorescently labelled multiplex PCR and the ABI PRISM 310 genetic analyzer. The analysis of one hair sample revealed one allele deviation from the profile of the putative Rottweiler perpetrator possibly caused by a mutation. The PCR fragments in question at the PEZ20 locus were sequenced and compared with the alleles detected in the Hungarian canine population and identified on a repeat number basis. The allele frequencies were determined based on typing of 242 genetically independent canine individuals from 72 breeds. The results suggested that two of the canine individuals could be the perpetrators.

Animals↗
PubMed2002

Sequence variations in the primer binding regions of the highly polymorphic STR system SE33.

Five cases were found with sequence variation in the primer binding region of the highly polymorphic STR system SE33 used in the German genetic database. This variation can produce homozygote mistyping because of failed primer binding. We calculated a variation rate of 0.0022 (0.0006-0.0056) that could lead to complications in database matching. To avoid errors in individual genetic characterisation for SE33 as described here, it is suggested that two different primer pairs should be used.

Base Sequence↗