Human Genetic Disease Analysis

Overview

This book covers all of the commonly used methods for the analysis and diagnosis of human genetic diseases. The chapters describe the analysis of gene mutations as well as the functional organization of genes and chromosomal regions, keeping up-to-date with recent advances in the field. Revisions in this second edition include sections on PCR and FISH. 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 allowed this process ...

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1993 Trade paperback 2nd ed. New. No dust jacket as issued. Trade paperback (US). Glued binding. 148 p. Contains: Illustrations. Practical Approach Series. Audience: ... General/trade. Read more Show Less

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Overview

This book covers all of the commonly used methods for the analysis and diagnosis of human genetic diseases. The chapters describe the analysis of gene mutations as well as the functional organization of genes and chromosomal regions, keeping up-to-date with recent advances in the field. Revisions in this second edition include sections on PCR and FISH. 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 allowed this process to be completed in just a few hours. PCR has had an impact in almost all areas of molecular medicine and thus all the chapters in this new edition have been significantly revised. The development of fluorescence in situ hybridization (FISH) has been important for both genome analysis and diagnosis. This revolutionary new technology is detailed in this volume. The book will be valuable for scientists working in a pure research environment as well as those in service laboratories analyzing different human disease mutations.

This book contains both black-and-white and color illustrations.

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Product Details

  • ISBN-13: 9780199633081
  • Publisher: Oxford University Press, USA
  • Publication date: 7/28/1993
  • Series: Practical Approach Series , #124
  • Edition description: REV
  • Edition number: 1
  • Pages: 148
  • Product dimensions: 6.13 (w) x 9.25 (h) x 0.36 (d)

Table of Contents

List of contributors
Abbreviations
1 Fetal DNA analysis 1
2 The use of synthetic oligonucleotides as specific hybridization probes in the diagnosis of genetic disorders 21
3 Pulsed-field gel electrophoresis in the analysis of genomic DNA and YAC clones 35
4 Fluorescent in situ hybridization 59
5 Fine mapping of genes: the characterization of the transcriptional unit 83
6 Chromosome analysis and sorting by flow cytometry 109
Index 123
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