Course unit content
Cytogenetics : structure and function of human chromosomes - cell cycle and mitosis - metaphase chromosome detection techniques - human chromosomes diseases - dose compensation for sexual chromatin. <br />
Formal human genetics: family trees - transmission and segregation of autosomal and sex-related characters - the law of Hardy-Weinberg and its applications. <br />
Action of the gene: discovery and analysis of enzymatic defects in the various metabolic districts - genetics of hemoglobins - blood groups. <br />
The Human Genome project: cultural and organizational aspects - how the human genome was mapped and sequenced - genome project for model organisms. <br />
Organisation of human genome : nuclear and mitochondrial genome - organization, distribution and function of human genes (which code RNA and polypeptides) - non-coding DNA with tandem or interspersed repeats. <br />
Human gene expression : transcriptional regulation of gene expression - post-transcriptional regulation - epigenetic mechanisms and remote control - micro RNAs - organization and particular expression of immunoglobulin and TCR genes. <br />
Human genetic diseases : loss of function mutations - gain of function mutations - the effects of gene dosage - molecular pathology: from the gene to the disease and from the disease to the gene - chromosome diseases - Pharmacogenetics : genes involved in pharmacokinetics and pharmacodynamics - polymorphisms in the genes that affect drug availability - genetic polymorphisms of receptors and repair systems - molecular strategies for optimizing pharmacological therapy <br />
Gene therapy: the different strategies for gene therapy - gene therapy for hereditary diseases, neoplasias and infectious diseases - ethics of gene therapy in man. <br />
Bibliography
<p>P. SUDBERY - Genetica Molecolare Umana - Zanichelli <br />
T.STRACHAN, A.P.READ - Genetica Umana Molecolare - UTET <br />
J.J.PASTERNAK - Genetica Umana Molecolare - Zanichelli <br />
E.H.McCONKEY -Genetica Umana. Una prospettiva molecolare - Zanichelli <br />
Supplementary text: <br />
P.LOLLINI, C.DE GIOVANNI, P .NANNI - Terapia genica - Zanichelli <br />
P.PARHAM - Immunologia - Zanichelli <br />
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