Screen LibraryDiagnostic techniques in genetics
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 lar...
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| Group Author: | ; ; |
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| Published: |
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| Literature type: | Electronic eBook |
| Language: |
English French |
| Subjects: | |
| Online Access: |
http://onlinelibrary.wiley.com/book/10.1002/0470033363 |
| 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. |
| Carrier Form: | 1 online resource (xi, 256 pages) : illustrations |
| Bibliography: | Includes bibliographical references and index. |
| ISBN: |
0470033363 9780470033364 9780470870266 (electronic bk.) 0470870265 (electronic bk.) |
| Index Number: | QH442 |
| CLC: | Q75 |
| Contents: |
Preface / List of contributors -- Techniques and tools in molecular biology used in genetic diagnoses / Nucleic acids -- The different types of genetic material studied -- DNA origins and types -- RNA and cDNA -- The enzymatic tools for in vitro treatment of DNA -- DNA fragmentation and study of the fragments -- DNA fragmentation -- Separation of DNA fragments by electrophoresis and membrane transfer -- Selective amplification of a nucleotide sequence -- 1.5.1. DNA sequence 1.9. Molecular hybridization techniques and applications -- Introduction -- Probes, labelling and reading of the signal -- FISH and in situ PCR -- Detection and dosage methods using signal amplification -- Southern blot hybridization -- ASO techniques : dot blot and reverse-dot blot -- ARMS and OLA techniques -- Definition, analysis and applications of RFLPs -- VNTRs and microsatellites -- Single-nucleotide polymorphism markers -- DNA microarrays -- Other techniques to study allelic Different mutation classes -- Dominance and recessivity are explained by molecular pathology -- Genetic heterogeneity can be explained by molecular pathology -- Example diagnoses for autosomal diseases -- Cystic fibrosis -- Haemochromatosis -- Thalassaemias and drepanocytosis -- Example diagnoses for x-linked diseases -- Fragile x syndrome -- Genetic diagnosis of haemophilia A and B -- Molecular diagnosis of Duchenne and Becker muscular dystrophies -- Neurodegenerative Molecular diagnosis in oncology / General introduction -- Cellular pathways targeted by the tumour process -- Types of genetic alteration leading to cancer -- Activating mutations -- Inactivating mutations -- Alteration origins : the role of the repair genes -- Benefits of molecular studies to patient healthcare -- Chronic myeloid leukaemia (CML) -- Acute myeloid leukaemia (AML) -- Burkitt's lymphoma -- Anatomopathologic diagnosis, therapy and pro Applications of molecular biology to cytogenetics / Molecular diagnosis of anomalies in the number of chromosomes -- Diagnosis using fluorescence in situ hybridization -- Molecular biology diagnosis -- Chromosomal microdeletions -- Mechanisms for the generation of microdeletions and microduplications -- Methods to detect chromosomal microdeletions -- Uniparental disomies -- Conclusions and perspectives -- Identification using genetic fingerprints / 6.1. Genetic fingerprints by the analysis of nuclear DNA -- The molecular and technological basis of the scientific approach -- The mathematical basis of the scientific approach -- Applications -- A special case : the Y chromosome sequence -- Genetic fingerprints with mitochondrial DNA -- Specific characteristics of mitochondrial DNA -- Utility of mitochondrial DNA -- Methods and technique Molecular genetics and populations / Hardy-Weinberg equilibrium and measures of genetic diversity -- Analysis of recessive diseases -- Analysis of dominant diseases -- Analysis of sex-linked diseases -- Multiple alleles and informativity -- Selection-mutation balance and Haldane's rule -- Diagnosis with genetic testing : cystic fibrosis -- an academic case -- Gametic disequilibrium -- Allele frequencies and gamete frequencies -- Gametic equilibrium and disequilibrium -- Origin of |