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  • 1
    Digitale Medien
    Digitale Medien
    DNA polymorphisms in the human tyrosine hydroxylase/insulin/ insulin-like growth factor II chromosomal region in relation to glucose and insulin responses (1993)
    Springer
    Diabetologia 36 (1993), S. 25-32 
    Details
    ISSN: 1432-0428
    Schlagwort(e): Type 2 (non-insulin dependent) diabetes mellitus ; glucose infusion test ; insulin ; tyrosine hydroxylase ; insulin-like growth factor II ; DNA polymorphisms ; linkage disequilibrium
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Summary The feasibility of disease association studies using polymorphic DNA markers in the tyrosine hydroxylase/insulin/insulin-like growth factor II chromosomal region was indicated by a high degree of linkage disequilibrium found in haplotypes. Haplotypes were resolved in the parents from Scandinavian nuclear families by studying the segregation of eight DNA polymorphisms. Comparison of observed vs expected frequencies of haplotypes, as well as pairwise measures of linkage disequilibrium, indicated a high degree of linkage disequilibrium. Five restriction fragment length polymorphisms linked to the tyrosine hydroxylase/insulin/ insulin growth factor II region of chromosome 11 were investigated in relation to Type 2 (non-insulin-dependent) diabetes mellitus, and to glucose and insulin responses to glucose infusion in healthy subjects. No significant differences in genotype frequencies between Type 2 diabetic (n=53) and healthy subjects (n=106) were found. A significant association (p〈0.001) was initially found between genotypes defined by a PstI polymorphism located 5′ of the tyrosine hydroxylase gene and the early glucose response to a standardized glucose infusion test in healthy subjects. However, a follow-up study of 112 healthy individuals failed to confirm this finding.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00399089
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  • 2
    Digitale Medien
    Digitale Medien
    Polymorphic 2-hydroxylation of desipramine (1993)
    Springer
    European journal of clinical pharmacology 44 (1993), S. 445-450 
    Details
    ISSN: 1432-1041
    Schlagwort(e): Desipramine ; Genetic polymorphism ; cytochrome P450 ; debrisoquine ; drug metabolism
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Chemie und Pharmazie , Medizin
    Notizen: Summary We have studied desipramine hydroxylation capacity, determined as the metabolic ratio of desipramine to 2-hydroxydesipramine in the urine after a single oral dose of 10 mg of desipramine, in 340 Swedish Caucasians, including the members of 45 two-generation families. Desipramine metabolic ratios were bimodally distributed among 237 unrelated subjects and 8% were poor metabolizers. There was a strong correlation between the metabolic ratios for desipramine and debrisoquine in 337 subjects phenotyped with both drugs and there was no dissociation between their capacities to hydroxylate desipramine and debrisoquine. Complex segregation analysis in the 45 families gave evidence for a major locus with incomplete recessivity (d=0.14) controlling the 2-hydroxylation of desipramine. Simila results were obtained in segregation analysis for debrisoquine. There was evidence for linkage between the CYP2D6 gene and the gene regulating the hydroxylation of desipramine and debrisoquine. This study has provided unequivocal evidence that the capacity to 2-hydroxylate desipramine is polymorphic and under similar genetic control to the hydroxylation of debrisoquine.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00315541
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  • 3
    Digitale Medien
    Digitale Medien
    Hydroxylation polymorphisms of debrisoquine and mephenytoin in European populations (1990)
    Springer
    European journal of clinical pharmacology 39 (1990), S. 533-537 
    Details
    ISSN: 1432-1041
    Schlagwort(e): Genetic polymorphism ; debrisoquine ; pharmacogenetics ; sparteine ; dextromethorphan ; mephenytoin ; oxidative drug metabolism ; meta-analysis
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Chemie und Pharmazie , Medizin
    Notizen: Summary European data on the polymorphic metabolism of debrisoquine, sparteine, dextromethorphan and mephenytoin have been collected. No significant difference in phenotype frequencies was found between the separate series for debrisoquine, sparteine and dextromethorphan, which supports the claim that these probe drugs reflect the same enzyme polymorphism. The mean frequency of the phenotype slow debrisoquine metaboliser was 7.65% based on 5005 determinations. The overall mean reflecting all three drugs and 8764 determinations was 7.40%. This is consistent with a gene frequency of 0.27 (95% confidence interval 0.26–0.28). The overall mean of the phenotype slow metaboliser of mephenytoin was 3.52% corresponding to a gene frequency of 0.19 (confidence interval 0.17–0.20). The incidence of slow metabolism of debrisoquine and possibly also of S-mephenytoin was homogeneous in the samples from European populations. This is of considerable interest as interethnic differences are now being found both in the phenotypic characters as well as the genotypes of polymorphic drug oxidation.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00316090
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  • 4
    Digitale Medien
    Digitale Medien
    Severity of mutation in the phenylalanine hydroxylase gene influences phenylalanine metabolism in phenylketonuria and hyperphenylalaninaemia heterozygotes (1994)
    Springer
    Journal of inherited metabolic disease 17 (1994), S. 215-222 
    Details
    ISSN: 1573-2665
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Summary We examined whether the degree of residual activity from the mutant phenylalanine hydroxylase (PAH) allele affected phenylalanine metabolism in heterozygotes for phenylketonuria (PKU) or non-PKU hyperphenylalaninaemia (HPA). Discriminant analysis was carried out to find the function of fasting plasma concentrations of phenylalanine (PHE) and tyrosine (TYR) that best separated carriers from non-carriers. This function (0.103TYR −0.214PHECORR −4.499) was subsequently used as the dependent variable, with thein vitro activity of the expressed mutant PAH as the independent variable, in a regression analysis performed on heterozygotes for mutations that had been studied in a eukaryotic cell expression system. This analysis showed a significant correlation (r=0.40,n=140,p〈0.001), although there was a wide spread of values within each of the two major groups of carriers and a considerable overlap between the groups. We conclude that the severity of the mutation, as determined byin vitro expression analysis, in the mutant PAH gene is reflected in the biochemical phenotype of heterozygotes. This result emphasizes the relevance of the cell expression system used for establishing the relative severities of most mutations at the PAH locus. Differences in the activities from the carried mutant PAH allele on phenylalanine metabolism in heterozygotes are, however, small compared to the activity from the normal PAH allele and are easily obscured by other factors leading to inter- or intra-individual variation in phenylalanine metabolism. Fasting plasma concentrations of phenylalanine and tyrosine thus can not be used to predict the severity of the carried PAH mutation in individual PKU or HPA heterozygotes.
    Materialart: Digitale Medien
    URL: http://dx.doi.org/10.1007/BF00711621
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