UniversitÓ degli Studi di Pavia - FacoltÓ di Scienze MMFFNN

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Human Molecular Genetics

Corsi di laurea:
Molecular Biology and Genetic
Ranzani Guglielmina Nadia
Anno accademico:
Codice corso:
Crediti formativi:
Decreto Ministeriale:
Ore di lezione:
Lingua di insegnamento:


The students must pass an oral examination. Each candidate will be asked to discuss some issues included in the course content.


Students are expected to have good background knowledge of basic principles of classical and molecular genetics.


The human genome project. The structure and organization of the human genome. The new world of non-coding RNAs.

Human DNA variability: extent and technologies. DNA polymorphisms (RFLPs, VNTR, Microsatellite sequences) as tools in forensic genetics and in medical genetic research. The linkage analysis (principles); identification of disease-genes.

Genes in pedigrees; inheritance of genetic diseases, genotype-phenotype correlations. Cystic fibrosis.

The human hemoglobins: structure, organization and evolution of globin genes; hemoglobinopathies; sickle-cell anemia; molecular basis of thalassemias.

Cancer genetics: oncogenes and tumor suppressor genes; sporadic and hereditary tumors. The genetic model of sporadic colorectal cancer. The genetic model of retinoblastoma. The hereditary polyposis and the Lynch syndrome.

Epigenetics (histone code, DNA methylation, miRNAs). Epigenetics and cancer.

Complex diseases. The Genome Wide Association Studies (GWAS); the HapMap? project.

Pharmacogenetics and pharmacogenomics (applications in cancer treatment).

Trinucleotide repeat disorders; the Huntington's disease.

The nucleotide excision repair (NER). The NER-defect syndromes.


Suggested Text Books:
P. SUDBERY - Human Molecular Genetics, 3rd Edition - Publisher: Benjamin-cummings Publishing Company
T.STRACHAN, A.P.READ - Human Molecular Genetics, 3rd Edition - Publisher: Routledge (taylor & Francis)garland
J.J.PASTERNAK - An Introduction to Human Molecular Genetics: Mechanisms of Inherited Diseases, 2nd Edition – Publisher: Wiley-Liss
NUSSBAUM, McINNES?, WILLARD - Genetics in Medicine, 7th Edition - Publisher: Thompson & Thompson

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Credits: apnetwork.it