Basic elements of gene mapping and identification

The Human Genome Project has vastly facilitated the localization, identification, and characterization of disease-related genes by means of positional cloning. Application of this technique has elucidated the pathophysiology of several inheritable cardiovascular disorders and will ultimately change the clinical evaluation of and approach to these diseases. Over the next several years, efforts aimed at gene identification, DNA sequencing, correlation of genetic and physical maps, and manipulation of large segments of DNA will lead to identification of numerous candidate genes for positional analysis and will provide ample opportunity to identify the genetic abnormalities in other cardiovascular disorders. Because of the importance and clinical implications of these advances, a conceptual understanding of this methodology is essential to the practicing clinician.