Genetics of Common Diseases

ISBN-13: 9781859960417 / Angielski / Twarda / 1997 / 344 str.

Iris Mack Dayoub; S. Humphries; I. Day

Opis

Genetics of Common Diseases: Future Therapeutic and Diagnostic Possibilities is a unique collection of articles by leading authorities in disease genetics research. It presents the principles of analysis of genetic diseases and a range of potential approaches to their management, ranging from conventional drugs to gene therapy, which might utilize the knowledge of genotype-specific risks. The value to the general population of the ability to diagnose and predict the risk of various diseases is assessed.

Recenzje

"I recommend this book as a good introduction to this exciting area." BMJ; ; "In summary, this book is an interesting and very informative attempt to bring together aspects of our rapidly increasing knowledge of the genetics of common diseases, with poss

Spis treści

Contributors -- Abbreviations -- Preface -- 1 Perspectives in human linkage studies. /S. Povey -- Pairwise linkage analysis of Mendelian traits -- Finding the cause of a disease which shows clear Mendelian inheritance -- After a LOO score of +3, what next? -- Narrowing the search by searching for critical recombinants -- Linkage disequilibrium -- Linkage analysis in more complex situations -- Linkage in complex traits -- Why are we doing this? -- References -- 2 Twin research: nature versus nurture in common diseases. /K.O. Kyvik -- Introduction -- History -- Biology of twinning -- Demography -- Twin studies -- Assumptions -- T he concept of concordance rates -- Heritability -- Twin studies and common diseases -- Other types of twin studies -- Conclusion -- References -- 3 The molecular basis of genetic variation: mutation detection methodologies and limitations. /E. Spanakis and I.N.M. Day -- Introduction -- Current theories of mutation -- Parallel development of theory with methodology -- Methods of mutation detection -- Limitations of current methods for mutation detection -- Our approaches -- Conclusions -- References -- 4 Finding susceptibility genes for schizophrenia. /M.J. Owen and M.C. O'Donovan -- Introduction -- Molecular genetic approaches to schizophrenia -- Candidate gene association studies -- Conclusions -- References -- 5 Approaches to determining the genetic basis of noninsulin-dependent diabetes mellitus. /M. McCarthy -- Non-insulin-dependent diabetes mellitus (NIDDM) -- Overview of approaches to dissect NIDDM -- Choosing a candidate gene -- Exploring candidate genes -- Assessing genotype-phenotype correlations -- Understanding the biology of complex traits -- References -- 6 Population-scale genotype assays: APOE gene in Alzheimer's dementia and coronary risk. /I.N.M. Day, D. Palamand and E. Spanakis -- Introduction: availability of population-scale gene testing -- Background -- Some future possibilities -- References -- 7 Genetic tests for coronary artery disease risk: the fibrinogen and stromelysin genes as examples. / S.E. Humphries, H. Montgomery, S. Ye and A. Henney -- Introduction -- Molecular biology of variability -- Sequence polymorphism at the fibrinogen locus, and variability in plasma fibrinogen levels -- Fibrinogen and the acute phase response -- Acute phase stimulation of fibrinogen by exercise -- Genes determining development of atherosclerosis and plaque rupture -- Stromelysin genotype and progression of atherosclerosis -- Conclusion -- References -- 8 HLA genes and rheumatoid arthritis susceptibility. /W. Ollier -- Introduction -- Epidemiology of RA -- Defining the genetic basis of RA -- HLA associations with RA -- The shared epitope hypothesis -- Is HLA associated with RA severity or susceptibility? -- Is HLA-encoded RA susceptibility due to a single or multiple genetic factors? -- How much of the genetic contribution is due to HLA? -- References -- 9 Practical benefits from understanding the genetics of chronic diseases. /R.R. Williams, S.C. Hunt, P.N. Hopkins, L. Wu and S. Stephenson -- Introduction -- From genes to treatment and prevention -- Improved diagnosis -- More successful practical applications: MED PED FH, - a practical approach to early diagnosis, treatment and prevention -- More public awareness and financial support are needed -- MED PED social issues: cost and confidentiality -- Predictions for the future -- References -- Appendix -- 10 Specific approaches to pulmonary emphysema and its therapy. /N.A. Kalsheker -- Genetics of pulmonary emphysema -- a1-Antitrypsin deficiency -- Structure of a1-antitrypsin -- cxrAntitrypsin gene structure and mRNA species -- Genetic mutations associated with disease -- Therapeutic trials with cxrantitrypsin -- Gene therapy -- Gene transfer techniques -- Results of administration -- Gene therapy and a1-antitrypsin deficiency -- Response to therapy -- Conclusions -- References -- 11 Gene therapy for neurological diseases: quo vadis? Achievements and expectations of, and challenges for, the brave new technology. /P.R. Lowenstein, J. Jaszai and M.G. Castro -- Introduction -- Challenges towards clinical implementation: the central questions and the development of a viable clinical strategy -- Gene therapy tools: their status circa June 1997 -- How to achieve cell type-specific expression -- Conclusions -- References -- Bibliography -- 12 Impact of genomics on the discovery and development of modern medicines. /D.S. Bailey and G.I. Johnston -- Introduction -- The traditional route to pharmaceutical discovery -- Supporting the discovery process through genomics -- Realizing new paradigms for drug discovery and development through genomics -- References -- 13 Oligonucleotides and their future potential as therapeutic agents. /K.R. Fox -- Introduction -- Triplex recognition motifs -- Current strategies -- Applications -- Outstanding problems -- References -- 14 Protein engineering of therapeutic antibodies: use of antibodies for immunosuppression and treatment of leukaemias. /M. Clark -- Introduction -- Choice and specificity of antibodies -- Immunogenicity -- Biological properties -- Clinical use -- References -- 15 Getting to know your genes privately. /P.G. Debenham -- Who knows about the genetics revolution? -- Commercial genetic diagnostics is already with us -- Medical genetic diagnostics: the perception of private tests -- CF carrier testing service: the component parts -- Guidelines for future commercial genetic tests available directly to the public -- What genetic diagnostics will be provided next? -- Presenting the private possibilities -- Genetics for diagnostics or for what? -- References -- Index.

O autorze

Department of Medicine, University College London Medical School, The Rayne Institute, London, UK (address from October 1997: Wessex Human Genetics Institute, Southampton University Hospital, Southampton, UK). Department of Medicine, University College London Medical School, The Rayne Institute, London, UK.