Human Genetic Disease Analysis
Oxford University Press (Verlag)
978-0-19-963309-8 (ISBN)
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This volume aims to cover all the commonly used methods for the analysis and diagnosis of human genetic diseases. The chapters cover the analysis of gene mutations, as well as the functional organization of genes and chromosomal regions. The techniques for the analysis of human genetic disease have advanced rapidly in recent years. For example, when the first edition of this book was published, prenatal diagnosis based on DNA analysis was performed in two weeks. The advent of PCR has changed this to just a few hours. PCR has had an impact in almost all areas of molecular medicine and thus all of the chapters in this new edition have additions. The development of fluorescence in situ hybridization (FISH) has been important for both genome analysis and diagnosis. This important new technology is detailed in chapter four of this volume. This book should be of interest to scientists working in a pure research environment, as well as those in service laboratories analyzing different human disease mutations.
Part 1 Foetal DNA analysis, J.M. Old: chorionic villi DNA - sampling and shipment, DNA preparation, DNA yield; amniocyte DNA - choice of sample, DNA preparation; other DNA sources; quick DNA preparation for PCR; storage of DNA; DNA analysis - southern blot analysis, polymerase chain reaction; potential problems - maternal DNA contamination, plasmid and target DNA contamination, technical difficulties, non-paternity. Part 2 The use of synthetic oligonucleotides as specific hybridization probes in the diagnosis of genetic disorders, S.W. Thein, et al: principle of oligonucleotide hybridization; oligonucleotide probe design; detection of target DNA sequence - preparation of oligonucleotide probe, oligonucleotide probe hybridization, an alternative hybridization - competition hybridization; practical applications - polymorphism in the "c-erb-B2" transmembrane region, specificity of competition hybridization. Part 3 Pulsed-field gel electrophoresis in the analysis of genomic DNA and YAC clones, J.T. den Dunnen et al: available PFGE systems; preparation of DNA samples - isolation of DNA in agarose, preparation of marker DNAs, restriction digestion of agarose-embedded DNA; electrophoresis - the PFGE system, gel preparation, planned DNA separations, blotting of PFGE gels, hybridization of PFGE gels, rehybridization of PFGE blots; PFGE applications - analysis of chromosomal (human) DNA, YAC technology, further applications; future developments. Part 4 Fluorescent "in situ" hybridization, V.J. Buckle and K.A. Rack: practical considerations - chromosome and nuclei preparation, pre-hybridization procedures, DNA resources for use as probes, probe labelling, hybridization, signal detection, chromosome banding, visualization of signal, analysis of signal, trouble-shooting; applications - direct localization within the genome, sequence order on the chromosome, structural chromosome abnormalities, numerical chromosome abnormalities, chromosome painting, nuclear organization, other applications. Part 5 Fine mapping of genes - the characterization of the transcriptional unit, M. Antoniou, et al: cDNA and genomic DNA clones; mapping the transcriptional unit - restriction map, northern blots, "run-on" transcription, R looping, nuclease Sl protection and southern blots, nuclease Sl protection of end-labelled probes, exonuclease VII, T7, T3 or SP6 polymerase probes, primer extensions; polymerase chain reaction (PCR). Part 6 Chromosome analysis and sorting by flow cytometry, S. Monard et al: instrumentation - safety; discussion.
| Erscheint lt. Verlag | 10.6.1993 |
|---|---|
| Reihe/Serie | A Practical Approach ; No.124 |
| Zusatzinfo | halftones, line figures, tables, bibliography |
| Verlagsort | Oxford |
| Sprache | englisch |
| Maße | 150 x 230 mm |
| Gewicht | 420 g |
| Themenwelt | Medizin / Pharmazie ► Medizinische Fachgebiete |
| Studium ► 2. Studienabschnitt (Klinik) ► Humangenetik | |
| ISBN-10 | 0-19-963309-6 / 0199633096 |
| ISBN-13 | 978-0-19-963309-8 / 9780199633098 |
| Zustand | Neuware |
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