Protocols In Human Molecular Genetics

Extraordinary advances have been made in the field of human molecular genetics during the past five years. The ability to amplify a specific region ofDNA a millionfold in a few hours using the polymerase chain reaction has led to the rapid identification of mutations in human disease and of DNA sequence polymorphisms on every human chro- some. DNA fragments of up to 1 megabase in length can now be resolved by pulsed-field gel electrophoresis to create long-range physical maps of important regions of the genome, and can be cloned in the form of yeast artificial chromosomes. The discovery of highly variable "minisatellite" DNA sequences has led to the development of DNA fingerprinting. The application of these techniques to the study of the human genome has culminated in major advances such as the cloning of the cystic fibrosis gene, the construction of genetic linkage maps of each human chro- some, the mapping of many genes responsible for human inherited d- orders, genetic fingerprinting of forensic specimens, and the detection of mutations involved in the development of human tumors. Although many of the new techniques in molecular genetics can be learned relatively easily, it is often difficult for a researcher to obtain all of the relevant information necessary for getting up a technique and applying it successfully. The information available in the research lite- ture often lacks the depth of description that the new user requires.

Short Protocols in Human Genetics is a compendium of methods from Current Protocols in Human Genetics, part of the well-known series that set the standard of excellence for laboratory manuals. Short Protocols in Human Genetics provides coverage of the latest methods in human genetics, including collecting family histories and pedigrees, linkage analysis, molecular genetics, physical mapping, clinical testing, and cytogenetics.

Current Protocols in Human Genetics, a two-volume looseleaf manual, is the one publication needed for comprehensive coverage of the latest methods in human genetics, including collecting family histories and pedigrees, linkage analysis, molecular genetics, physical mapping and genomics, clinical diagnostic procedures, cytogenetics, gene therapy, and forensics. The editors' and authors' expert commentaries assist you in conducting sophisticated experimental projects for the analysis of human and other higher eukaryotic genomes. Carefully edited, step-by-step protocols replete with material lists, background information, and safety and troubleshooting tips ensure that you can duplicate the experimental results in your own laboratory. Quarterly updates, which are filed into the looseleaf, keep the set current with the latest developments in genome methods by providing new protocols and updating existing ones. The initial purchase includes one year of updates and then subscribers may renew their annual subscriptions. Current Protocols publishes a family of laboratory manuals for bioscientists, including Molecular Biology, Immunology, Protein Science, Cytometry, Cell Biology, Neuroscience, Pharmacology, and Toxicology.

Protocols used in Molecular Biology is a compilation of several examples of molecular biology protocols. Each example is presented with a concise introduction, materials and chemicals required, a step-by-step procedure and troubleshooting tips. Information about the application of the protocol is also provided. The techniques included in this book are essential to research in the fields of proteomics, genomics, cell culture, epigenetic modification and structural biology. The protocols can also be used by clinical researchers (neuroscientists and oncologists, for example) for medical applications (diagnostics, therapeutics and multidisciplinary projects).

Recent advances in genetics over the last quarter of a century, especially in molecular techniques, have dramatically reduced the cost of determining genetic markers and hence opened up a field of research that is increasingly helping to detect, prevent and/or cure many diseases that afflict humans. In Statistical Human Genetics: Methods and Protocols expert researchers in the field describe statistical methods and computer programs in the detail necessary to make them more easily accessible to the beginner analyzing data. Written in the highly successful Methods in Molecular BiologyTM series format, with examples of running the programs and interpreting the program outputs, the chapters include the kind of detailed description and implementation advice that is crucial for getting optimal results from human genetic data collected in the laboratory. Thorough and as much as possible intuitive, Statistical Human Genetics: Methods and Protocols aids scientists in understanding the computer programs and analytical procedures they need to use.

In this new edition, the editors have thoroughly updated and dramatically expanded the number of protocols to take advantage of the newest technologies used in all branches of research and clinical medicine today. These proven methods include real time PCR, SNP analysis, nested PCR, direct PCR, and long range PCR. Among the highlights are chapters on genome profiling by SAGE, differential display and chip technologies, the amplification of whole genome DNA by random degenerate oligonucleotide PCR, and the refinement of PCR methods for the analysis of fragmented DNA from fixed tissues. Each fully tested protocol is described in step-by-step detail by an established expert in the field and includes a background introduction outlining the principle behind the technique, equipment and reagent lists, tips on trouble shooting and avoiding known pitfalls, and, where needed, a discussion of the interpretation and use of results.