Abstract
This completely revised and updated second edition to integrates the many new technologies and insights now available for the diagnosis of genetic diseases. The authors use such methodologies as PCR optimization dosage analysis, mutation scanning, and quantitative fluorescent PCR for aneuploidy analysis, Neurofibromatosis type 1, and Duchenne muscular dystrophy. These largely generic methodologies may be adapted to most genetic conditions for which a molecular diagnosis is relevant, no matter how frequent or rare their incidence. Molecular Diagnosis of Genetic Diseases, Second Edition offers diagnostic molecular geneticists a unique opportunity to sharpen their scientific skills in the design of assays, their execution, and their interpretation.

From Book News, Inc.
Sgaramella and Eridani, both affiliated with the Instituto di Tecnologie Biomediche Avanzate, Italy, present methods developed by leading scientists in cell biology, genetics, cell culturing, and gene transfer for the preparation, characterization, and use of artificial chromosomes. Contributors cover all aspects of artificial chromosome research, from basic genetics to attempts at building new gene therapy tools, and describe possible applications in genetic manipulation requiring large portions of the genome. Each protocol is described in step-by-step detail and includes background on principles, reagent and equipment lists, and troubleshooting tips.Copyright 2004 Book News, Inc., Portland, OR

Book Info
Instituto di Tecnologie Biomediche Avanzate, Segrate, Italy. Features methods for preparing, characterizing, and using artificial chromosomes, coverage of relevant areas of research, instructions to ensure success, and more. DNLM: Chromosomes, Artificial, Mammalian.