Publisher's Synopsis
This volume aims to cover all the commonly used methods for the analysis and diagnosis of human genetic diseases. The chapters cover the analysis of gene mutations, as well as the functional organization of genes and chromosomal regions. The techniques for the analysis of human genetic disease have advanced rapidly in recent years. For example, when the first edition of this book was published, prenatal diagnosis based on DNA analysis was performed in two weeks. The advent of PCR has changed this to just a few hours. PCR has had an impact in almost all areas of molecular medicine and thus all of the chapters in this new edition have additions.;The development of fluorescence in situ hybridization (FISH) has been important for both genome analysis and diagnosis. This important new technology is detailed in chapter four of this volume.;This book should be of interest to scientists working in a pure research environment, as well as those in service laboratories analyzing different human disease mutations.
