Human Genetic Diseases

This book covers 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 so rapidly in recent years that almost all the chapters in this new edition have significant additions. 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 and has had an impact in almost all areas of molecular medicine. The expanded chapters now have sections also covering: fluorescence in situ hybridization (FISH), synthetic oligonucleotide hybridization, and pulsed-field gel electrophoresis. This book should be a valuable text for scientists working in a pure research environment as well as those in service laboratories analyzing different human disease mutations.