Biomedical subjects

I Plate

Publications and source records attributed to I Plate.

10 recordsLinked to original sources

PubMed2003

Validation of the X-chromosomal STR DXS6809.

This paper presents sequence and population genetic data of the microsatellite marker DXS6809 (GDB 365492) obtained from a German population sample ( n=725 chromosomes). DXS6809 is a highly polymorphic X-linked tetranucleotide polymorphism presenting 12 alleles in our population. Sequencing of 77 PCR products covering 12 alleles (by length), characterised DXS6809 as a marker with a complex repeat sequence structure. A polymorphism information content (PIC) of 0.825 and a mean exclusion chance (MEC) of 0.815 were obtained. A deviation from the Hardy-Weinberg equilibrium (HWE) could not be detected and male and female samples exhibited a similar allele distribution. Kinship testing revealed a typical X-linked inheritance and 2 mutations were found in 394 meioses. DXS6809 is located 90.18 Mb, i.e. 102.3 cM, from the Xp-telomere (Xp-tel), corresponding to Xq21.33. The presented data qualify DXS6809 as a useful supplement to the known forensic ChrX marker panel.

Adolescent↗

PubMed2003

Identification of the minor component of a mixed stain by using mismatch primer-induced restriction sites in amplified mtDNA.

We report a case in which STR typing failed to identify the minor component of a mixed saliva stain, but a mitochondrial restriction analysis succeeded in discriminating between the two components. To identify the nt16093 and nt16265 transitions, the template was amplified with the mismatch primers L16092-mm16085 and H16266-mm16269. In the presence of the transitions the mismatch primers created a BsaB I and a Cac8 I restriction site, respectively. Subsequently, aliquots were restricted separately using the enzymes Cac8 I and BsaB I which clearly identified the minor stain component.

Beverages↗

PubMed2001

16 X-chromosome STR loci frequency data from a German population.

Allele frequencies for 16 X-linked STRs, suitable for forensic purposes, were obtained from a sample of unrelated German individuals (male and female). The presented data show also repeat sequence structures and statistic parameters describing there information content.

Alleles↗

PubMed2000

Efficiency of forensic mtDNA analysis. Case examples demonstrating the identification of traces.

The paper presents results of forensic mitochondrial DNA analyses which were aimed at typing the traces caused by touching or abrasion of skin cells. Five cases of strangulation tool investigation are summarised. Two cases of homicide could be cleared up by identifying the mtDNA of both the victim and the suspect on cables which had obviously been used as strangulation tools. In eight of 10 cases, weapons could be reliably assigned to their users. The mtDNA of the users could be even detected on cartridges after firing. In one case, evidence of a suicide could be provided by means of mtDNA sequencing of the wiping traces on a suicide note.

DNA Fingerprinting↗

PubMed2000

Population data on the X chromosome short tandem repeat locus HumHPRTB in two regions of Germany.

This report contains the results of two population studies on the X chromosome STR HumHPRTB carried out in a Northern and a Southern region of Germany. The numbers of unrelated individuals were 443 and 335, respectively. Eight alleles (alleles 9 to 16) were found. In female individuals 29 different genotypes were encountered. In German populations the HumHPRTB STR was characterized by the following data: PIC = 0.750; HET = 0.769: MEC = 0.556. Allele distribution met the Hardy-Weinberg expectations. The Northern and Southern populations did not show any significant differences.

Alleles↗

PubMed1999

No microsatellite instability, but frequent LOH in liposarcomas.

To evaluate the significance of microsatellite instability (MI) and loss of heterozygosity (LOH) in the development of different histological subgroups of liposarcomas, we examined 28 tissue-samples from 21 patients and the corresponding non-neoplastic reference tissues. We investigated nine microsatellite loci and detected no MI. LOH for at least one marker was observed in 11 of 28 tumours (39%). Widespread allelic losses were a common characteristic of pleomorphic liposarcomas. Well-differentiated variants did not show LOH (p<0.003). Our findings support the idea that liposarcoma subgroups are defined by different spectra of genetic alterations. Inefficient DNA mismatch repair does not seem to be involved in the oncogenesis of liposarcomas.

DNA Repair↗

PubMed1998

Population genetic data of the STR HumD3S1358 in two regions of Germany.

This report gives the results of two population studies on HumD3S1358 from a northern and a southern region of Germany. The numbers of unrelated individuals were 326 and 666, respectively and seven main alleles, three rare allelic variants and 29 different genotypes were encountered. No significant statistical differences were seen between the northern and southern populations. The HumD3S1358 allele distributions were in agreement with Hardy-Weinberg expectations and two mutations were found in 780 meiotic events.

Adult↗

PubMed1997

Mitochondrial D-loop 3' (CA)n repeat polymorphism: optimization of analysis and population data.

We report a dinucleotide repeat polymorphism in the 3' area of the mitochondrial control region. The fragments obtained using a new primer set could be reliably separated by polyacrylamide gel electrophoresis (PAGE) using nondenaturing gels. A total of five alleles [(CA)3 to (CA)7] were detected on silver-stained gels. The 90 bp product corresponds to allele 5. Samples from one African and three European populations were characterized. Significant differences could be demonstrated as to the incidence of single alleles and allele distributions in different populations. These differences were found between the three European and one African Bantu population. For specific forensic questions the mitochondrial CA repeat is well suited. Gene diversities in populations of Germany, Hungary, the Russian Federation and Cameroon were 0.36, 0.40, 0.34, 0.52, respectively.

Africa↗

PubMedDate not supplied

Mitochondrial tRNA(Cys) mutation A5823G in a patient with motor neuron disease and temporal lobe epilepsy.

We discovered a new homoplasmic mutation in the mitochondrial cysteine tRNA of a 60-year-old Caucasian male suffering from asymmetrical pure lower motor neuron disease (MND) and temporal lobe epilepsy (TLE). Furthermore, titrations with Amytal, an inhibitor of NADH:CoQ oxidoreductase, revealed mild mitochondrial dysfunction in skeletal muscle tissue, which was described in patients with MND in an earlier report. The mutation was undetectable in 155 Caucasian controls of both sexes, in 40 MND patients and in 13 individuals suffering from TLE. It was, however, detected in a heteroplasmic state in the patient's mother, who did not suffer from a neurological disorder. Since this rare mutation affected a nonconserved base position and was not observed in MND or TLE materials, its relation to disease remains unclear.

Blotting, Southern↗

PubMedDate not supplied

Expression of matrix metalloproteinases in a series of 12 meningiomas.

The expression of metalloproteinases was evaluated in a series of 12 meningiomas of various histological subtypes including 3 meningotheliomatous, 3 fibroblastic, 4 transitional and one psammomatous meningioma (WHO grade I) as well as one anaplastic meningioma (WHO grade III). No gelatinolytic activity could be detected in all tumor samples pointing towards no or very low activity of both MMP-2 and MMP-9. At least MMP-2 mRNA could be found in 10 out of 12 tumor samples by the reverse transcription PCR method (RT-PCR) followed by electrophoresis on silver-stained polyacrylamide gels, which allows the detection even of small traces of a specific mRNA. The PCR products were identified as MMP-2 sequences without introns (mRNA-derived) by direct sequencing, thereby demonstrating a low transcriptional activity of the gene. The translation of these mRNAs, however, did not result in amounts of protein detectable by immunohistochemistry or Western blotting. Therefore, neither MMP-2 nor MMP-9 should play a major role for tumor growth within dura mater or bone structures or for brain infiltration in our tumor series. Therefore, other mechanisms must be responsible for extracellular matrix degradation at least in a fraction of meningiomas.

Gene Expression Regulation, Enzymologic↗