The hereditary transmission of the glutathione transferase hGSTT1-1 conjugator phenotype in a large family

Wiebel, Frederike A., Dommermuth, Anja, & Thier, Ricarda (1999) The hereditary transmission of the glutathione transferase hGSTT1-1 conjugator phenotype in a large family. Pharmacogenetics, 9(2), pp. 251-256.

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The polymorphism of human glutathione transferase hGSTT1-1 is expressed in three phenotypes. Experimentally, individuals can be classified as non-conjugators, low conjugators and 'high' conjugators depending on the enzyme activity in blood towards methylene chloride using a gas chromatographic assay. Non-conjugators do not have a functional hGSTT1 gene; however, little is known about the molecular basis of the three conjugator phenotypes. The higher hGSTT1-1 activity in high conjugators may be the result of enzyme induction or be genetically determined. Twenty-nine members of a large family, including three generations were phenotyped and genotyped with respect to hGSTT1-1. The hGSTT1-1 enzyme activity of high conjugators was twice as high as that of low conjugators. The distribution of hGSTT1-1 phenotypes strongly indicates a Mendelian intermediary inheritance, in which a gene-dosage effect results in a doubled enzyme expression in the presence of two functional alleles. The Mendelian intermediary inheritance is further supported by the findings of a semiquantitative polymerase chain reaction method designed to distinguish the three genotypes of hGSTT1 for rapid screening of large study groups.

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ID Code: 77499
Item Type: Journal Article
Refereed: Yes
Keywords: Glutathione transferase hGSTT1-1, Mendelian intermediary inheritance, Polymorphism, glutathione transferase, adolescent, adult, aged, allele, article, controlled study, enzyme activity, gene dosage, gene transfer, genetic screening, genotype, human, human cell, inheritance, phenotype, polymerase chain reaction, priority journal, protein expression, Aged, 80 and over, Base Sequence, DNA Primers, Female, Humans, Male, Middle Aged, Pedigree
ISSN: 0960-314X
Divisions: Current > Schools > School of Clinical Sciences
Current > QUT Faculties and Divisions > Faculty of Health
Copyright Owner: Copyright 1999 Lippincott Williams & Wilkins
Deposited On: 13 Oct 2014 23:51
Last Modified: 13 Oct 2014 23:51

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