| Description |
1 online resource (xi, 256 pages) : illustrations |
| Contents |
2.1. Introduction -- 2.1.1. Different mutation classes -- 2.1.2. Dominance and recessivity are explained by molecular pathology -- 2.1.3. Genetic heterogeneity can be explained by molecular pathology -- 2.2. Example diagnoses for autosomal diseases -- 2.2.1. Cystic fibrosis -- 2.2.2. Haemochromatosis -- 2.2.3. Thalassaemias and drepanocytosis -- 2.3. Example diagnoses for x-linked diseases -- 2.3.1. Fragile x syndrome -- 2.3.2. Genetic diagnosis of haemophilia A and B -- 2.3.3. Molecular diagnosis of Duchenne and Becker muscular dystrophies -- 2.4. Neurodegenerative diseases -- 2.4.1. Introduction -- 2.4.2. Polyglutamine neurodegenerative disorders -- 2.4.3. Pathophysiology of polyglutamine disorders -- 2.5. References and bibliography -- 2.5.1. References -- 2.5.2. Bibliography |
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3. Molecular diagnosis in oncology / Dominique Stoppa-Lyonnet -- 3.1. General introduction -- 3.2. Cellular pathways targeted by the tumour process -- 3.3. Types of genetic alteration leading to cancer -- 3.3.1. Introduction -- 3.3.2. Activating mutations -- 3.3.3. Inactivating mutations -- 3.4. Alteration origins : the role of the repair genes -- 3.5. Benefits of molecular studies to patient healthcare -- 3.5.1. Chronic myeloid leukaemia (CML) -- 3.5.2. Acute myeloid leukaemia (AML) -- 3.5.3. Burkitt's lymphoma -- 3.5.4. Anatomopathologic diagnosis, therapy and prognosis -- 3.6. Genetic predisposition to cancers -- 3.6.1. Introduction -- 3.6.2. Genetic predispositions to cancers identified so far -- 3.7. Genetic tests for cancer predisposition -- 3.7.1. Introduction -- 3.7.2. Help taking care of at-risk individuals : multiple endocrine neoplasia type 2 -- 3.7.3. Some genetic tests are of limited interest : search for a constitutive mutation in the TP53 gene -- 3.7.4. Molecular genetic testing for breast cancer predisposition through the search for mutations in the BRCA genes -- 3.8. Conclusions and perspectives -- 3.9. References |
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4. Applications of molecular biology to cytogenetics / Étienne Mornet, Brigitte Simon-Bouy -- 4.1. Introduction -- 4.2. Molecular diagnosis of anomalies in the number of chromosomes -- 4.2.1. Introduction -- 4.2.2. Diagnosis using fluorescence in situ hybridization -- 4.2.3. Molecular biology diagnosis -- 4.3. Chromosomal microdeletions -- 4.3.1. Introduction -- 4.3.2. Mechanisms for the generation of microdeletions and microduplications -- 4.3.3. Methods to detect chromosomal microdeletions -- 4.4. Uniparental disomies -- 4.5. Conclusions and perspectives -- 4.6. References -- 5. Screening and identification of pathogenic and exogenic agents / Nevine Boutros, Anne Casetta, Denis Cointe, Annick Diolez, Liliane Keros -- 5.1. Clinical virology-- 5.1.1. Introduction -- 5.1.2. Classical methods of analysing viral infections -- 5.1.3. Analysis methods for viral infections using molecular biology -- 5.1.4. Conclusions -- 5.2. Clinical bacteriology -- 5.2.1. Introduction -- 5.2.2. Bacterial taxonomy -- 5.2.3. Bacteriological diagnosis -- 5.2.4. Molecular detection of antibiotic resistance -- 5.2.5. Bacterial typing -- 5.3. Detection of GMOs -- 5.3.1. What is a GMO? -- 5.3.2. Regulations -- 5.3.3. Detection of GMOs and their derived products -- 5.3.4. harmonization of analysis methods -- 5.3.5. Conclusions -- 5.4. References and bibliography -- 5.4.1. References -- 5.4.2. Bibliography |
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6. Identification using genetic fingerprints / Jean-Paul Moisan, Olivier Pascal -- 6.1. Introduction -- 6.2. Genetic fingerprints by the analysis of nuclear DNA -- 6.2.1. The molecular and technological basis of the scientific approach -- 6.2.2. The mathematical basis of the scientific approach -- 6.2.3. Applications -- 6.2.4. A special case : the Y chromosome sequence -- 6.3. Genetic fingerprints with mitochondrial DNA -- 6.3.1. Introduction -- 6.3.2. Specific characteristics of mitochondrial DNA -- 6.3.3. Utility of mitochondrial DNA -- 6.3.4. Methods and techniques -- 6.3.5. Heteroplasmy -- 6.3.6. Application to the identification of cadavers -- 6.3.7. Application to the identification of hair -- 6.3.8. Applications to the discrimination between man and animal, or between animals -- 6.3.9. Conclusions -- 6.4. Society facing the question of genetic fingerprint files -- 6.4.1. Introduction in the form of an anecdote -- 6.4.2. Creation and maintenance of genetic fingerprint files -- 6.5. Conclusions -- 6.6. Bibliography |
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7. Molecular genetics and populations / Jean-Louis Serre -- 7.1. Hardy-Weinberg equilibrium and measures of genetic diversity -- 7.1.1. Analysis of recessive diseases -- 7.1.2. Analysis of dominant diseases -- 7.1.3. Analysis of sex-linked diseases -- 7.2. Multiple alleles and informativity -- 7.3. Selection-mutation balance and Haldane's rule -- 7.4. Diagnosis with genetic testing : cystic fibrosis -- an academic case -- 7.5. Gametic disequilibrium -- 7.5.1. Allele frequencies and gamete frequencies -- 7.5.2. Gametic equilibrium and disequilibrium -- 7.5.3. Origin of gametic disequilibrium -- 7.5.4. Changes in gametic disequilibrium or linkage disequilibrium -- 7.6. Reference and bibliography -- 7.6.1. Reference -- 7.6.2. Bibliography -- Index |
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1.9. Molecular hybridization techniques and applications -- 1.9.1. Introduction -- 1.9.2. Probes, labelling and reading of the signal -- 1.9.3. FISH and in situ PCR -- 1.9.4. Detection and dosage methods using signal amplification -- 1.9.5. Southern blot hybridization -- 1.9.6. ASO techniques : dot blot and reverse-dot blot -- 1.9.7. ARMS and OLA techniques -- 1.9.8. Definition, analysis and applications of RFLPs -- 1.9.9. VNTRs and microsatellites -- 1.9.10. Single-nucleotide polymorphism markers -- 1.9.11. DNA microarrays -- 1.10. Other techniques to study allelic diversity -- 1.10.1. Introduction -- 1.10.2. Singled-strand conformation polymorphism (SSCP) -- 1.10.3. Denaturing gradient gel electrophoresis (DGGE) -- 1.10.4. Searching for polymorphisms using DHPLC -- 1.10.5. Protein truncation test (PTT) -- 2. The diagnosis of inherited diseases / Catherine Boileau, Emmanuelle Girodon, Éric Le Guern, Étienne Mornet, Véronique Pingaud, Serge Pissard, Jean-Louis Serre |
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Preface / Jean-Louis Serre -- List of contributors -- 1. Techniques and tools in molecular biology used in genetic diagnoses / Jean-Louis Serre -- 1.1. Nucleic acids -- 1.2. The different types of genetic material studied -- 1.2.1. DNA origins and types -- 1.2.2 RNA and cDNA -- 1.3. The enzymatic tools for in vitro treatment of DNA -- 1.4. DNA fragmentation and study of the fragments -- 1.4.1. DNA fragmentation -- 1.4.2. Separation of DNA fragments by electrophoresis and membrane transfer -- 1.5. Selective amplification of a nucleotide sequence -- 1.5.1. DNA sequence amplification of a nucleotide sequence -- 1.5.1. DNA sequence amplification by PCR -- 1.5.2. RA amplification as cDNA by RT-PCR -- 1.5.3. Quantitative PRC methods -- 1.5.4. RNA or DNA isothermic NASBA® amplification -- 1.6. DNA fragment ligation : recombinant DNA and cloning -- 1.6.1. Operating mode of ligases -- 1.6.2. Recombinant DNA -- 1.6.3. DNA cloning -- 1.6.4. Cloning vectors -- 1.7. DNA fragment sequencing -- 1.7.1. Principle of the Sanger method : the sequencing reaction -- 1.7.2. Reading of the sequencing reaction products -- 1.8. Modification of the sequence of a DNA fragment : site-directed mutagenesis |
| Summary |
Recent developments within molecular biology and genetic engineering have led to huge advances and changes within the biological sciences especially within the field of human genetics. Diagnostic Techniques in Genetics offers an important overview of how DNA or RNA technology may be applied to a large set of genetic diagnoses |
| Bibliography |
Includes bibliographical references and index |
| Notes |
Print version record |
| Subject |
Genetic Techniques.
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Molecular Diagnostic Techniques -- methods.
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Genetic screening.
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Genetic Testing -- methods.
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Molecular diagnosis.
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Molecular genetics.
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Genetic Techniques.
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Genetic Testing -- methods.
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Molecular Diagnostic Techniques -- methods.
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| Form |
Electronic book
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| Author |
Heath, Isabelle.
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Heath, Simon.
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Serre, Jean Louis.
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| ISBN |
0470033363 |
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0470870265 (electronic bk.) |
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9780470033364 |
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9780470870266 (electronic bk.) |
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(hbk. ; alk. paper) |
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(paperback; alk. paper) |
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(hbk. ; alk. paper) |
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(paperback; alk. paper) |
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