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Detection of DNA sequence polymorphisms in carcinogen metabolism genes by polymerase chain reaction
Author(s) -
Bell Douglas A.
Publication year - 1991
Publication title -
environmental and molecular mutagenesis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1
H-Index - 87
eISSN - 1098-2280
pISSN - 0893-6692
DOI - 10.1002/em.2850180407
Subject(s) - debrisoquine , biology , genetics , polymerase chain reaction , genotyping , population , gene , carcinogen , allele , microbiology and biotechnology , cyp2d6 , genotype , medicine , environmental health
The glutathione transferase mu gene ( GST1 ) and the debrisoquine hydroxylase gene ( CYP2D6 ) are known to be polymorphic in the human population and have been associated with increased susceptibility to cancer. Smokers with low lymphocyte GST mu activity are at higher risk for lung cancer, while low debrisoquine hydroxylase activity has been correlated with lower risk for lung and bladder cancer. Phenotypic characterization of these polymorphisms by lymphocyte enzyme activity (GST) and urine metabolite ratios (debrisoquine) is cumbersome for population studies. Recent cloning and sequencing of the mutant alleles of these genes has allowed genotyping via the polymerase chain reaction (PCR). Advantages of PCR approaches are speed, technical simplicity, and minimal sample requirements. This article reviews the PCR‐based methods for detection of genetic polymorphisms in human cancer susceptibility genes.