This completely revised and updated second edition 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. 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.Analysis is performed using ABI GeneScan software on a Macintosh computer ( see Note 2). Again, no advantages have ... The instructions in this chapter give a key-stroke guide to this straightforward computer-based process. 2.1. Sequencinganbsp;...
|Title||:||Molecular Diagnosis of Genetic Diseases|
|Author||:||Rob Elles, Roger Mountford|
|Publisher||:||Springer Science & Business Media - 2004-01|