Cytogenetic methods in human biomonitoring: principles and uses

Cellular phenotypes can be applied as biomarkers to differentiate normal from abnormal biological -conditions. Several cytogenetic methods have been developed and allow the accurate detection of such phenotypic changes.Based on their mechanisms of formation, cellular phenotypes may be used either as biomarkers of exposure or as biomarkers of effect. Therefore, it is important that cytogenetic methods implemented in human biomonitoring should be based on a good knowledge of these mechanisms.In this chapter, we aim to review the mechanistic basis, the methodology, and the use in human biomonitoring studies of four major cytogenetic endpoints: sister chromatid exchanges (SCEs), high frequency cells (HFCs), chromosomal aberrations (CAs), and micronuclei (MN). In addition, an overview of potential confounding factors on the induction of these cytogenetic makers is presented. Furthermore, the combination of cytogenetics with molecular methods, which allows chromosome and gene identification on metaphase as well as in interphase cells with high resolution, is discussed. Finally, practical recommendations for an efficient application of these cytogenetic assays and a correct interpretation of the results on the basis of cellular phenotype(s) assessment in human biomonitoring are highlighted.