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DNA Polymorphisms as Disease Markers

  • Book
  • © 1991

Overview

Editors:
  1. D. J. Galton

    1. Department of Medicine, St. Bartholomew’s Hospital, London, UK

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  2. G. Assmann

    1. Zentrallaboratorien der Medizinische Einrichtungen, University of Munster, Germany

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    You can also search for this editor in PubMed   Google Scholar

Part of the book series: NATO Science Series A: (NSSA, volume 214)

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Table of contents (14 chapters)

  1. Front Matter

    Pages i-viii
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  3. Diabetes

    1. Facilitative Glucose Transporters: Regulation and Possible Role in NIDDM

      • Mike Mueckler, Karen Tordjman
      Pages 27-41

    2. Molecular Genetic Approach to Polygenic Disease: Non-Insulin Dependent Diabetes Mellitus (NIDDM)

      • M. Alan Permutt, Laszlo Koranyi, Akira Matsutani
      Pages 43-59

  4. Lipids

    1. HDL and Reverse Transport of Cholesterol: Insights from Mutants

      • Gerd Assmann, Arnold von Eckardstein, Harald Funke
      Pages 61-70

    2. Apolipoprotein E Polymorphisms and the Genetic Heterogeneity of Familial Dysbetalipoproteinemia

      • Louis M. Havekes, Arn M. J. M. van den Maagdenberg, Peter de Knijff, Monique Mulder, Rune R. Frants
      Pages 71-77

    3. Abnormalities of Apolipoprotein B Metabolism in the Lipid Clinic

      • Alberto Corsini, Alberico L. Catapano, Maria Mazzotti, Guido Franceschini, Cesare Romano, Remo Fumagalli et al.
      Pages 79-89

    4. Genetic Variation at the APOA-I, C-III, A-IV Gene Complex: A Critical Review of the Associations Between the PSTI and SSTI RFLPS at this Locus with Lipid Disorders

      • Jose M. Ordovas, Fernando Civeira, Carmen Garces, Miguel Pocovi
      Pages 91-103

    5. The Molecular Basis of the Chylomicronemia Syndrome

      • Detlev Ameis, Junji Kobayashi, Heiner Greten, Michael C. Schotz
      Pages 105-109

    6. Lipoprotein Lipase Gene Variants in Subjects with Hypertriglyceridaemia and Coronary Atherosclerosis

      • J. A. Thorn, D. J. Galton
      Pages 111-121

  5. Atherosclerosis

    1. Atherosclerosis: The Genetic Analysis of a Multi-Factorial Disease

      • J. C. Chamberlain, D. J. Galton
      Pages 123-133

    2. RFLP Markers of Familial Coronary Heart Disease

      • William H. Price, Arthur H. Kitchin
      Pages 135-147

    3. DNA Polymorphisms as Disease Markers

      • David J. Galton, John C. Alcolado
      Pages 149-155

  6. Back Matter

    Pages 157-160
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Keywords

About this book

The purpose of this workshop was to assess the value of DNA polymorphisms for the prediction, diagnosis or elucidation of aetiology for common metabolic diseases such as diabetes, hyperlipidaemia and atherosclerosis. The advent of recombinant DNA techniques has produced an explosion in knowledge of restriction site polymorphisms and hypervariable sequences around candidate genes for such common metabolic diseases as atherosclerosis, hyperlipidaemia and diabetes mellitus. These diseases are the major causes of morbidity and mortality in Western societies today. Since 1983 it has become apparent that there is much more variation in the frequency and sites of these DNA polymorphisms in human populations than was initially appreciated and that the majority of these DNA polymorphisms are only linkage markers for the disease. Consequently it was considered timely for laboratories involved in the mapping of these DNA mutations to meet together to discuss the implications of their studies. The main issues are whether such DNA polymorphisms will lead to an identification of major aetiological loci and which are the best techniques to achieve this? What is the cause of the differences in frequencies of such polymorphisms amongst world populations? Are such studies best conducted in homogeneous populations or in pedigrees? Are haplotypes, though more laborious to construct, a better way to proceed than analysis of single site polymorphisms? What are the consensus polymorphic sites that relate to the common metabolic diseases of diabetes, atherosclerosis and the hyperlipidaemias? The real need now to discuss the theoretical background behind the

Editors and Affiliations

  • Department of Medicine, St. Bartholomew’s Hospital, London, UK

    D. J. Galton

  • Zentrallaboratorien der Medizinische Einrichtungen, University of Munster, Germany

    G. Assmann

Bibliographic Information

  • Book Title: DNA Polymorphisms as Disease Markers

  • Editors: D. J. Galton, G. Assmann

  • Series Title: NATO Science Series A:

  • DOI: https://doi.org/10.1007/978-1-4615-3690-1

  • Publisher: Springer New York, NY

  • eBook Packages: Springer Book Archive

  • Copyright Information: Springer Science+Business Media New York 1991

  • Hardcover ISBN: 978-0-306-44039-7Published: 31 October 1991

  • Softcover ISBN: 978-1-4613-6640-9Published: 18 October 2012

  • eBook ISBN: 978-1-4615-3690-1Published: 06 December 2012

  • Edition Number: 1

  • Number of Pages: VIII, 160

  • Topics: Cardiology, Biochemistry, general, Human Genetics

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