Publisher's Synopsis
Within the last decade, much progress has been made in the analysis and diagnosis of human inherited disease, and in the characterization of the underlying genes and their associated pathological lesions.;This volume presents a short history of mutation research, an empirically-based analysis of the nature of human gene mutation, an assessment of the consequences of mutation at the level of gene expression, an overview of currently available methods for mutation detection and analysis, and a reference source to current possibilities in molecular diagnostic medicine.;A central theme of the book is the non-randomness of human gene mutation and its implications for both the nature and prevalence of genetic disease. The realization that some DNA sequences are much more mutable than others has provided new and important clues as to the basic (and endogenous) mechanisms of mutagenesis. Novel explanatory/predictive models of mutagenesis are proposed which together constitute a unique approach to understanding the ultimate causes of human genome pathology.
