Molecular diagnosis of genetic diseases / edited by Rob Elles and Roger Mountford.

Contributor(s): Elles, Rob | Mountford, Roger
Material type: TextTextSeries: Methods in molecular medicine: 92.Publisher: Totowa, N.J. : Humana Press, ©2004Edition: 2nd edDescription: 1 online resource (x, 387 pages) : illustrationsContent type: text Media type: computer Carrier type: online resourceISBN: 9781592594320; 0896039323; 9780896039322; 1592594328Subject(s): Genetic disorders -- Molecular diagnosis -- Laboratory manuals | Genetic Diseases, Inborn -- diagnosis | Genetic Testing | Genetic Techniques | HEALTH & FITNESS -- Diseases -- Genetic | MEDICAL -- GeneticsGenre/Form: Laboratory Manual. | Electronic books. | Laboratory manuals. Additional physical formats: Print version:: Molecular diagnosis of genetic diseases.DDC classification: 616/.042 LOC classification: RB155.6 | .M65 2004Online resources: Click here to access online
Contents:
Optimizing PCR for clinical diagnosis / M.P. Bulman -- Current and emerging techniques for diagnostic mutation detection: an overview of methods for mutation detection / C.F. Taylor and G.R. Taylor -- Mutation scanning for the clinical laboratory: DHPLC / J.F. Harvey and J.R. Sampson -- Mutation scanning for the clinical laboratory-protein truncation test / Y. Wallis -- Mutation scanning for the clinical laboratory: automated fluorescent sequencing / A.J. Wallace -- Comparative sequence analysis / C. Mattocks, P. Tarpey and J. Whittaker -- Gene dosage analysis by multiplex amplifiable probe hybridization / J.A. Armour [and others] -- Prenatal detection of chromosome aneuploidy by quantitative fluorescence-PCR / K. Mann -- Fragile X disease / V. Biancalana and J. Macpherson -- Huntington's disease / L. Meredith -- Hematological applications: hemoglobinopathies / J.M. Old -- Cystic fibrosis / H. Cuppens, E. Dequeker and J.J. Cassiman -- Familial adenomatous polyposis / F. Macdonald -- Multiple endocrine neoplasia types 1 and 2 / S. Ellard -- Neurofibromatosis type 1: a common familial cancer syndrome / M. Upadhyaya [and others] -- Duchenne and Becker muscular dystrophy / A.L. Kneppers, I.B. Ginjaar and E. Bakker -- Spinal muscular atrophy / H. Scheffer -- Quality management in molecular genetics / E. Voorhoeve, A.L. Kneppers and S. Patton -- Regulation of genetic testing in clinical practice / U. Kristoffersson.
Summary: In this new edition, leading scientists actively engaged in providing clinical molecular genetic testing have completely revised and updated this highly praised work to include the many new technologies and insights now available for the diagnosis of genetic diseases. Now organized around generic technologies applied to disease-specific diagnosis, the authors use such methodologies as PCR optimization dosage analysis, mutation scanning, and quantitative fluorescent PCR for aneuploidy analysis, Neurofibromatosis type 1, and Duchenne muscular dystrophy. This new edition widens the range of specific diagnostic applications and includes such new topics as comparative sequence analysis and an overview of methods in mutation detection. The largely generic methodologies may be adapted to most genetic conditions for which a molecular diagnosis is relevant, no matter how frequent or rare their incidence. As in the first edition, each readily reproducible protocol contains step-by-step instructions, background information, equipment and reagent lists, and tips on troubleshooting and avoiding known pitfalls. Up-to-date and highly practical, Molecular Diagnosis of Genetic Diseases, Second Edition integrates all the latest technologies with the now standard approaches of the first edition, and offers diagnostic molecular geneticists a unique opportunity to sharpen their scientific skills in the design of assays, their execution, and their interpretation.
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Includes bibliographical references and index.

Optimizing PCR for clinical diagnosis / M.P. Bulman -- Current and emerging techniques for diagnostic mutation detection: an overview of methods for mutation detection / C.F. Taylor and G.R. Taylor -- Mutation scanning for the clinical laboratory: DHPLC / J.F. Harvey and J.R. Sampson -- Mutation scanning for the clinical laboratory-protein truncation test / Y. Wallis -- Mutation scanning for the clinical laboratory: automated fluorescent sequencing / A.J. Wallace -- Comparative sequence analysis / C. Mattocks, P. Tarpey and J. Whittaker -- Gene dosage analysis by multiplex amplifiable probe hybridization / J.A. Armour [and others] -- Prenatal detection of chromosome aneuploidy by quantitative fluorescence-PCR / K. Mann -- Fragile X disease / V. Biancalana and J. Macpherson -- Huntington's disease / L. Meredith -- Hematological applications: hemoglobinopathies / J.M. Old -- Cystic fibrosis / H. Cuppens, E. Dequeker and J.J. Cassiman -- Familial adenomatous polyposis / F. Macdonald -- Multiple endocrine neoplasia types 1 and 2 / S. Ellard -- Neurofibromatosis type 1: a common familial cancer syndrome / M. Upadhyaya [and others] -- Duchenne and Becker muscular dystrophy / A.L. Kneppers, I.B. Ginjaar and E. Bakker -- Spinal muscular atrophy / H. Scheffer -- Quality management in molecular genetics / E. Voorhoeve, A.L. Kneppers and S. Patton -- Regulation of genetic testing in clinical practice / U. Kristoffersson.

Print version record.

In this new edition, leading scientists actively engaged in providing clinical molecular genetic testing have completely revised and updated this highly praised work to include the many new technologies and insights now available for the diagnosis of genetic diseases. Now organized around generic technologies applied to disease-specific diagnosis, the authors use such methodologies as PCR optimization dosage analysis, mutation scanning, and quantitative fluorescent PCR for aneuploidy analysis, Neurofibromatosis type 1, and Duchenne muscular dystrophy. This new edition widens the range of specific diagnostic applications and includes such new topics as comparative sequence analysis and an overview of methods in mutation detection. The largely generic methodologies may be adapted to most genetic conditions for which a molecular diagnosis is relevant, no matter how frequent or rare their incidence. As in the first edition, each readily reproducible protocol contains step-by-step instructions, background information, equipment and reagent lists, and tips on troubleshooting and avoiding known pitfalls. Up-to-date and highly practical, Molecular Diagnosis of Genetic Diseases, Second Edition integrates all the latest technologies with the now standard approaches of the first edition, and offers diagnostic molecular geneticists a unique opportunity to sharpen their scientific skills in the design of assays, their execution, and their interpretation.

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