Publications by authors named "J P von-Wartburg"

Self reports of flushing reaction after drinking, cutaneous sensitivity to alcohol (patch test), and genotypic determination of ADH2, ADH3, and ALDH2 were studied in 53 Brazilian volunteers of different ethnic groups. Genotypes were determined using single-strand conformation polymorphism in discontinuous buffer electrophoresis. Analysis of the results indicated several cases of a reported flushing reaction among ALDH2 1/1 individuals, while all but 2 cases of ALDH2 heterozygotes reported a flushing reaction.

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As various isoenzymes of gastric alcohol dehydrogenase exist and as the effect of sex and age on these enzymes is unknown, this study measured the activity of gastric alcohol dehydrogenase at high and low ethanol concentrations in endoscopic biopsy specimens from a total of 290 patients of various ages and from 10 patients with chronic alcoholism. Gastric alcohol dehydrogenase was also detected by immunohistological tests in biopsy specimens from 40 patients by the use of a polyclonal rabbit antibody against class I alcohol dehydrogenase. A significant correlation was found between the immunohistological reaction assessed by the intensity of the colour reaction in the biopsy specimen and the activity of alcohol dehydrogenase measured at 580 mM ethanol.

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Under appropriate conditions single strand conformation polymorphism (SSCP) analysis of polymerase chain reaction (PCR) products allows the detection of single base mutations in a given DNA fragment. We adapted this method for the routine determination of allele variants of human alcohol and acetaldehyde dehydrogenase without radioisotopic labeling. After PCR amplification of the selected exon, the DNA fragments were heat-denatured and loaded on a polyacrylamide gel containing glycerol.

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Mounting evidence from various fields of research links the oxidation product of alcohol, acetaldehyde, with the development of alcohol abuse-related pathology. One factor governing the production of acetaldehyde is the genetically determined pattern of class I alcohol dehydrogenase isoenzymes, consisting of "fast" beta 2 and gamma 1 and "slow" beta 1 and gamma 2 subunits. Alcoholics carrying the beta 2 and gamma 1 genes might, therefore, be more susceptible to alcohol-related liver disease.

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