Molecular Pathology Teaching

Molecular Pathology

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DNA, double strand

This section is structured around presentations on molecular cellular mechanisms, relevant for the understanding of basic mechanisms and essential to put the techniques in perspective (limitations, troubleshooting). This represents the backbone for understanding the clinical applications, which in Anatomic Pathology are very much focused on oncological aspects (as it is briefly highlighted in this introduction). Relevant cases are also included in the Online Case Studies and will be cross-referenced here.

Available material can be accessed here:


1. Basic molecular components of cells. Terminology in Molecular Genetic Pathology. 2. Structure and function of DNA. Replication and segregation of genetic material. 3. Structure and function of RNA. Genetic transcription. (I) Initiation of transcription and (II) Termination and N/C transport
4. Structure and function of proteins. Genetic transduction. 5. Chromosomal integrity: Telomeres. Role in cellular aging 6. Gene integrity. Reparation systems.
7. Human Genome Project (HUGO). Impact on the study of human diseases.


1. Quantitative alteration of genetic dose: Amplification and deletion. 2. Structural genetic alterations (I). Translocations. 3. Structural genetic alterations (II). Microsatellite lesions.
4. Structural genetic alterations (III). Point mutations. 5. Alterations of gene expression (I). Mechanisms of over‐expression and blockade. 6. Alterations of gene expression (II). Epigenetic modifications and genetic imprinting.
7. Alterations of mitochondrial DNA. 8. Alterations of protein conformation. Amyloid and prion proteins. 9. Multi‐factor diseases. Genes and disease susceptibility (infections, role of HLA) and treatment response (pharmaco‐genetics).
10. Cell cycle and apoptosis as cause of disease. 11. Biogenesis of cell membranes and organelles. Subcellular pathology (mitochondria, lysosomes, peroxysomes, Golgi apparatus).


1. Molecular bases of nucleic acid hybridization. Practical applications. 2. Genetic material amplification: Linear and exponential methods. 3. Chromosome study techniques. Karyiotype, molecular analysis and fluorescence in situ hybridization (FISH) in translocation assays. Comparative genomic hybridization (CGH).
4. Techniques for DNA studies (I). Southern blot: Restriction enzyme digestion and fragment polymorphisms. Genetic dose quantitative assays. 5. Techniques for DNA studies (I). Southern blot: Restriction enzyme digestion and fragment polymorphisms. Genetic dose quantitative assays. 6. Techniques for DNA studies (II). DNA deletion and loss of heterozygosity).
7. Techniques for DNA studies (III). General and speci_ic methods in point mutation studies. DNA sequencing. 8. Techniques for DNA studies (IV). Telomere and telomerase assays. 9. Techniques for DNA studies (V). Study methods of epigenetic changes (DNA methylation).
10. Techniques for RNA studies. In situ hybridization, Nothern blot, reverse transcriptase polymerase chain reaction (PCR), and real time PCR. 11. Microarrays. Types and applications in disease molecular studies. 12. Techniques for protein studies. Immunohistochemistry, Western blots, and bidimensional gels.
13. Internet in disease molecular studies. Online databases and software.

Useful links in Molecular Pathology

Useful links in Molecular Pathology for disease investigation, tools for genetic analysis and reference books appear in Links and Search.

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