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The current volume includes chapters on peroxisomal disorders, genetic aspects of cancer, Gaucher disease, and other topics.
The first broad survey of these two fields, this book deleniates a framework for integrating advances in human genetics into public health practice.
Continues the annual series presenting review articles designed to keep specialists abreast of advances in other disciplines working on human genetics. The five reviews cover genital adrenal hyperplasia, amyloidosis, Huntington's disease, cystic fibrosis, and von Recklinghausen neurofibromatosis. An
There is growing enthusiasm in the scientific community about the prospect of mapping and sequencing the human genome, a monumental project that will have far-reaching consequences for medicine, biology, technology, and other fields. But how will such an effort be organized and funded? How will we develop the new technologies that are needed? What new legal, social, and ethical questions will be raised? Mapping and Sequencing the Human Genome is a blueprint for this proposed project. The authors offer a highly readable explanation of the technical aspects of genetic mapping and sequencing, and they recommend specific interim and long-range research goals, organizational strategies, and funding levels. They also outline some of the legal and social questions that might arise and urge their early consideration by policymakers.
Advances in Genetics increases its focus on modern human genetics and its relation to medicine with Volume 33 of this long-standing serial. The recent merger of Molecular Genetic Medicine with Advances in Genetics affirms the Academic Press commitment to publish important reviews of the broadest interest to geneticists and their colleagues in affiliated disciplines.In this volume, Petes and Pukkila synthesize the latest research on meiotic recombination, with specific reference to crossover and gene conversions. The "absurd size and complex" structure of the Dystrophin gene is considered in another chapter, with discussions of strategies for future diagnosis and treatment of muscular dystrophy. Two chapters also examine the molecular genetics of sex determination, including the influence of maternal age and resulting chromosomal aberrations. Volume 33 also includes a review of the PAX and HOX gene families and their links to the developmental process, cellular growth control, and forms of cancer. Case studies of thrombophilia, Menkes, and Wilson diseases are used to exemplify the genetic disorders of blood clotting, copper deficiency, and toxicity, respectively. Triman takes a genetic approach to understanding the function of ribosomal RNA using E. coli as the model best able to reveal the inherent complications of the translation process. Leach and O'Connell describe the use of radiation hybrids for constructing high-resolution maps of the human genome. With these reviews the alliance of Molecular Genetic Medicine with Advances in Genetics is completed under the banner of Advances in Genetics. Key Features* Presents technical and historical overviews of molecular biology applied to disease detection, diagnosis, and treatment* Chronicles the continuing explosion of knowledge in molecular genetic medicine by highlighting current approaches to understanding human illness* Documents the revolution in human and molecular genetics leading to a new field of medicine* This volume highlights Analysis of human chromosomes with chapters on pathology of sex determination and numerical chromosomal abnormalities Molecular and genetic bases of muscular dystrophy and Menkes and Wilson diseases Techniques including FISH, IRS-PCR, and radiation hybrids