The hereditary transmission of the glutathione transferase hGSTT1-1 conjugator phenotype in a large family
Data(s) |
01/04/1999
|
---|---|
Resumo |
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. |
Identificador | |
Publicador |
Lippincott Williams & Wilkins |
Relação |
http://journals.lww.com/jpharmacogenetics/Abstract/1999/04000/The_hereditary_transmission_of_the_glutathione.13.aspx 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. |
Direitos |
Copyright 1999 Lippincott Williams & Wilkins |
Fonte |
School of Clinical Sciences; Faculty of Health |
Palavras-Chave | #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 |
Tipo |
Journal Article |