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C Bruhn

Publications and source records attributed to C Bruhn.

9 recordsLinked to original sources
PubMed2000

Characterization of the glutathione S-transferase GSTT1 deletion: discrimination of all genotypes by polymerase chain reaction indicates a trimodular genotype-phenotype correlation.

Glutathione S-transferase theta enzyme activity involved in the metabolism of toxic compounds is absent in approximately 20% of Caucasians due to a homozygous deletion of GSTT1 (*0/0). Because the exact manner of the GSTT1 deletion was unknown, current genotyping of GSTT1 was limited to detect the presence versus complete absence of the gene by a GSTT1-specific polymerase chain reaction (PCR). Thus, heterozygous (*A/0) and homozygous (*A/A) samples could not be discriminated. We have characterized the boundaries of the deletion of the human glutathione S-transferase theta (GSTT1) gene: PCR mapping and sequencing revealed a 54251 bp fragment including GSTT1 to be deleted from chromosome 22, most likely by a homologous recombination event between two highly homologous sequence stretches that flank GSTT1. Based on the knowledge of the GSTT1*0 region, a PCR assay was devised for unambiguous discrimination of homozygously deleted (*0/0), heterozygously (*A/0) and homozygously GSTT1 carrying (*A/A) individuals. Genotyping of 180 samples of a Caucasian population revealed that the deletion consists of one defined allele, whose distribution in the population fits the Hardy-Weinberg equilibrium with observed 20% *0/0, 46% *A/0 and 34% *A/A individuals. The number of GSTT1*A alleles detected by this procedure correlated highly significant with the enzyme activity in erythrocytes. Genotype-phenotype comparisons demonstrated a codominant type of inheritance by a gene-dose effect: samples with two active alleles expressed a statistically significant higher enzymatic activity compared to those with one null allele (P < 0.0001, ANOVA).

Base Sequence↗
PubMed1999

Correlation between genotype and phenotype of the human arylamine N-acetyltransferase type 1 (NAT1).

Arylamine N-acetyltransferase 1 (NAT1) conjugates several aromatic amines and their N-hydroxylated metabolites by N- or O-acetylation. NAT1 genotype and phenotype is known to be variable in human populations. In this study, we set out to measure the functional relevance of the frequent NAT1 gene variants for the activity in human red blood cells. Healthy German volunteers (N = 314) were genotyped for NAT1 alleles *3, *4, *10, *11, *14, and *15 using polymerase chain reactions and restriction fragment length pattern analysis, and NAT1 enzyme kinetic parameters were measured in a subset of 105 individuals using p-aminobenzoic acid as specific substrate. There was no functional difference between NAT1 alleles *4 and *10. In particular, there was no trend of increasing activity from NAT1*4/*4 to *4/*10 and *10/*10. Carriers of the NAT1 *11 and *14 alleles had a statistically significant lower enzyme activity compared with carriers of the *3, *4, or *10 alleles. Compared with the wild-type genotype NAT1*4/*4, activity of the NAT1*11/*11, NAT1*11/*10, and NAT1*11/*4 genotypes was reduced by 20.7%, 35.7%, and 31.5%, respectively. Activity of the NAT1*10/*14 and NAT1*4/*14 genotypes was reduced by 49.8% and 55.6%, respectively. The difference in NAT1 activity between the *4/*11 and *4/*14 genotypes was also significant (P < 0.01). The carrier of the NAT1*15/*15 genotype had no detectable enzyme activity. In conclusion, functional consequences of NAT1 mutations were tested in a large population. Activity in carriers of NAT1 alleles *3, *4, and *10 did not differ, alleles NAT1*11 and *14 appeared to be low activity alleles, and allele NAT1*15 had no activity.

4-Aminobenzoic Acid↗
PubMed1998

Concordance between enzyme activity and genotype of glutathione S-transferase theta (GSTT1).

Blood samples from 140 healthy German volunteers were used to further characterize the genetic polymorphism of the human theta class glutathione S-transferase 1 (GSTT1). For measurements of GSTT1 activity, hemolysates were incubated in vitro with different concentrations of dichloromethane. The resulting enzymatically mediated production of formaldehyde was determined colorimetrically by the Nash reaction. GSTT1 genotyping was performed by polymerase chain reaction (PCR) methods using genomic DNA from total white blood cells. The prevalence of homozygous deletion of the GSTT1 gene was 19.3% (95% confidence limits: 12.2-27.7%). There was a high agreement between genotyping and phenotyping data. The individuals with the null genotype had a rate of formaldehyde production below the limit of quantification. In addition, in the group of GSTT1-positive individuals, we could differentiate highly active people (35.7%) from individuals with an intermediate enzyme activity (45.0%). It can be concluded that the PCR method is suitable to quickly genotype large populations, whereas the phenotyping assay at present offers the advantage of differentiating heterozygously from homozygously active subjects. Our results confirm the ethnic differences in the prevalence of the homozygous deleted genotype which were previously observed and seem to exist even between closely related ethnic groups such as German and Swedish populations.

Female↗
PubMed1994

Cadmium, lead, copper and mercury levels in fresh and canned bivalve mussels Tagelus dombeii (Navajuela) and Semelle sólida (Almeja) from the Chilean coast.

Samples of bivalve mussels Tagelus dombeii and Semelle sólida (Navajuelas and Almejas chilenas, respectively) caught at different sites along the coast of Chile were analysed for Cu, Cd, Hg and Pb content. The analyses were performed on samples of fresh and canned products, classified according to their length. Each Navajuela sample was divided into two subsamples. One was dissected and the visceral tissue, branchial tissue and gonads were removed, while the other sample consisted of the whole tissues. The heavy metal concentration of fresh mussel samples was compared with the same samples as canned products. The data show that for both species there are no significant differences in the metal concentration with the mollusc size in fresh samples and canned products. It has been shown that there is no contribution to the trace metal content (Cd, Pb and Hg) in canned Navajuelas and Almejas mussels as a consequence of the industrial process. A clear and significant reduction in the Cd and Cu content was observed in Navajuelas without visceral tissue and Almejas without mantle tissue for both the fresh and canned products. This is consistent and is corroborated with the high metal concentrations found in the visceral and mantle tissue.

Animals↗
PubMed1993

[Aluminum-related bone disease in chronic hemodialysis patients].

Plasma aluminum (pAl) was measured in 58 patients coming from three centers using different preparation of dialysis water: deionizer (29 patients), softener (16 patients) and reverse osmosis (13 patients). Twenty five healthy subjects were used as controls. A deferoxamine test was performed to 11 of 19 patients with pAl between 40 and 200 micrograms/dl and a bone biopsy with double tetracycline staining was executed to 15 patients with pAl over 40 micrograms/dl. Mean pAl was 9.5 +/- 1.7 micrograms/dl in controls and 34.3 +/- 6.1 169 +/- 27.8 and 50.8 +/- 10.3 micrograms/dl in patients coming form centers using deionizers, softeners and reverse osmosis respectively. Seventy six percent of patients coming from centers using deionizers and 85% of patients coming from centers with reverse osmosis had pAl below 40 micrograms/dl and all had values below 200 micrograms/dl. Plasma aluminum had a increase of over 200 micrograms/dl in 6 of 11 patients in which the deferoxamine test was performed. Six patients had a positive staining for aluminum in bone biopsies (three with basal pAl over 200 micrograms/dl and one with a increase in pAL after deferoxamine < 200 micrograms/dl). Of these, 2 patients had a mixed osteodystrophy and 4 a low turnover bone disease. Centers with deionizers and reverse osmosis had very low aluminum levels in dialysis water and five of six patients with aluminum levels related bone disease came from the center using softener.

Aluminum↗
PubMed1992

Toxic trace elements in Chilean seafoods: development of analytical quality control procedures.

Chile is a well known producer and exporter of shell fish. These seafoods, like other specimens of marine origin, are susceptible to environmental and other contamination by trace elements, including toxicants. Therefore, adequate analytical quality assurance is mandatory before accepting analytical results. In this context, the use of at least two independent methods of determination and validation with certified reference materials (CRM) provides acceptable criteria for judging the reliability of the data. This paper describes sample treatments and analytical procedures for Cd, Cu and Hg determinations in mollusc samples. Three independent analytical techniques, namely differential pulse anodic stripping voltammetry, neutron activation analysis and atomic absorption spectrometry, were used. CRM standards of the IAEA, NIST and BCR were analyzed to evaluate quality assurance. Following the quality control phase, the concentrations of cadmium, copper and mercury in fresh and canned mollusc samples Tagelus dombeii and Semelle solida (Navajuelas and Almejas chilenas respectively) from different locations were determined.

Chile↗
PubMed1992

Degradation of 2,4-dinitrophenol by two Rhodococcus erythropolis strains, HL 24-1 and HL 24-2.

Two Rhodococcus erythropolis strains, HL 24-1 and HL 24-2, were isolated from soil and river water by their abilities to utilize 2,4-dinitrophenol (0.5 mM) as the sole source of nitrogen. Although succinate was supplied as a carbon and energy source during selection, both isolates could utilize 2,4-dinitrophenol also as the sole source of carbon. Both strains metabolized 2,4-dinitrophenol under concomitant liberation of stoichiometric amounts of nitrite and 4,6-dinitrohexanoate as a minor dead-end metabolite.

2,4-Dinitrophenol↗
PubMed1987

Nitrosubstituted aromatic compounds as nitrogen source for bacteria.

Bacteria which utilized nitroaromatic compounds (0.5 mM) as sole source of nitrogen were isolated from soil. With 2,6-dinitrophenol and succinate as carbon source, a Pseudomonas strain was isolated which liberated and assimilated nitrite. Approximately 2 mol of NO(2) per mol of 2,6-dinitrophenol was released by resting cells. The xenobiotic compound was totally degraded, although specific growth yields were low even with succinate as a carbon source.

Journal Article↗