Biomarkers in the detection of human heritable and germinal mutagenesis

Abstract

An important potential use of biomarkers in human toxicology is the detection of induced mutational events in offspring and germ cells of exposed individuals. The importance, of course, is in risk estimation and the identification and prevention of exposure conditions that are harmful to the human genome. The challenge is to discover methods of sufficient power to find the rare, random, mutational events and to discriminate such events from other sources of molecular variation. Finding mutations is essentially a search for disorder. Normal biomarkers are inherently unsuitable in a positive search for disorder; instead one must either use abnormal markers or be prepared to search negatively, i.e., to look for and somehow validate the rare absence of a normal marker. In spite of these difficulties, there is progress to report and hope of future success in this field.