The book provides a broad overview of the fundamental theory and applications used in the diagnosis of numerous genetic diseases. Each chapter has been written by leading professionals in the field and is intended to show how molecular biology( DNA or RNA technology) may be applied to a large set of genetic diagnoses.
- Comprehensive coverage of DNA applications and genetic diagnoses
- includes a chapter on population genetics
- essential reading for students taking courses in medical genetics, medicine and molecular biology
List of Contributors.
1. Techniques and Tools in Molecular Biology Used in Genetic Diagnoses.
1.1 Nucleic acids.
1.2 The different types of genetic material studied.
1.3 The enzymatic tools for in vitro treatment of DNA.
1.4 DNA fragmentation and study of the fragments.
1.5 Selective amplification of a nucleotide sequence.
1.6 DNA fragment ligation: recombinant DNA and cloning.
1.7 DNA fragment sequencing.
1.8 Modification of the sequence of a DNA fragment: site–directed mutagenesis.
1.9 Molecular hybridization techniques and applications.
1.10 Other techniques to study allelic diversity.
2. The Diagnosis of Inherited Diseases.
2.2 Example diagnoses for autosomal diseases.
2.3 Example diagnoses for X–linked diseases.
2.4 Neurodegenerative diseases.
2.5 References and Bibliography.
3. Molecular Diagnosis in Oncology.
3.1 General introduction.
3.2 Cellular pathways targeted by the tumour process.
3.3 Types of genetic alteration leading to cancer.
3.4 Alteration origins: the role of the repair genes.
3.5 Benefits of molecular studies to patient healthcare.
3.6 Genetic predisposition to cancers.
3.7 Genetic tests for cancer predisposition.
3.8 Conclusions and perspectives.
4. Applications of Molecular Biology to Cytogenetics.
4.2 Molecular diagnosis of anomalies in the number of chromosomes.
4.3 Chromosomal microdeletions.
4.4 Uniparental disomies.
4.5 Conclusions and perspectives.
5. Screening and Identification of Pathogenic and Exogenic Agents.
5.1 Clinical virology.
5.2 Clinical bacteriology.
5.3 Detection of GMOs.
5.4 References and Bibliography.
6. Identification Using Genetic Fingerprints.
6.2 Genetic fingerprints by the analysis of nuclear DNA.
6.2.4 A special case: the Y chromosome sequence.
6.3 Genetic fingerprints with mitochondrial DNA.
6.4 Society facing the question of genetic fingerprint files.
7. Molecular Genetics and Populations.
7.1 Hardy Weinberg equilibrium and measures of genetic diversity.
7.4 Diagnosis with genetic testing: cystic fibrosis an academic case.
7.5 Gametic disequilibrium.
7.6 Reference and Bibliography.