Protocols in Human Molecular Genetics (Methods in Molecular Biology) (Vol.9)
Books / Hardcover
Books › Science › Life Sciences › Genetics & Genomics
ISBN: 0896032051 / Publisher: Humana Press, November 1991
Nearly two-thirds of the book is devoted to describing practical procedures encompassing a wide range of new methodologies, with the rest focusing on their specific experimental and clinical applications. Among the topics: DNA sequencing, gel electrophoresis, gene cloning, gene targeting, molecular diagnostics for cancer, Southern blot technique, ethical implications of molecular biology and medicine. Annotation copyright Book News, Inc. Portland, Or.
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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.
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