Einen breit gefä cherten Ü berblick ü ber die Anwendungen von DNA- und RNA-Technologien im Rahmen genetischer Diagnosen biette Ihnen dieser Band. Bewusst vermeidet es der Autor, allzu sehr ins Detail zu gehen; er wendet sich an Studenten unterer Semester, legt deshalb besonderen Wert auf Verstä ndlichkeit und behandelt vorrangig Themen von allgemeinem Interesse, sodass Sie ein solides Fundament fü r weiter gehende Spezialisierungen aufbauen kö nnen.
Inhaltsverzeichnis
Preface. 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. 1 Introduction.
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.
3. 9 References.
4. Applications of Molecular Biology to Cytogenetics.
4. 1 Introduction.
4. 2 Molecular diagnosis of anomalies in the number of chromosomes.
4. 3 Chromosomal microdeletions.
4. 4 Uniparental disomies.
4. 5 Conclusions and perspectives.
4. 6 References.
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. 1 Introduction.
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.
6. 5 Conclusions.
6. 6 Bibliography.
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.
Index.
