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Untersuchungen zum genetischen Polymorphismus der humanen Biotransformationsenzyme Glutathion-S-Transferase T1-1 und Arylamin-N-Acetyltransferase 1

by Bruhn, Claudia

Abstract (Summary)
The genetic polymorphisms of the glutathione S-transferase theta 1-1 (GSTT1-1) and the arylamine N-acetyltransferase 1 (NAT1) were found in the beginning of the 90's. There is a great interest in genotype-phenotype relations in individuals and in pharmacological and toxicological consequences of the polymorphisms. In this work, hemolysate of 314 healthy German volunteers was used for several genotyping and phenotyping methods. A concordance between the homozygous GSTT1 gene deletion and the enzyme deficiency in 27 of 140 individuals (19,3%)was found. In 80,7% of the volunteers a discrimination between intermediate and rapid metabolizers was possible in a German population for the first time. In addition it was proved, if the ex-vivo metabolism of dichloromethane, catalyzed by GSTT1-1, is inhibited by phosphono-analoga of glutathione or tacrine, a drug for treatment of Alzheimers' disease. The NAT1 polymorphism is characterized by several point mutations and deletions or insertions of oligonucleotides. 24 NAT1 alleles are known so far. In this work, the functional consequences of various NAT1 allele combinations in the genotypes of 105 individuals were determinated. There were found interethnic differences in the frequency of the NAT1*11 allele and the frequency of the homozygous gene deletion between the German and other Caucasien populations.
This document abstract is also available in German.
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Bibliographical Information:

Advisor:

School:Humboldt-Universität zu Berlin

School Location:Germany

Source Type:Master's Thesis

Keywords:genetic polymorphism genotype-phenotype relation

ISBN:

Date of Publication:03/12/2001

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