Genetics and Molecular Biology (2019/2020)
The teaching is organized as follows:
Knowledge of the principles and mechanisms of human and molecular genetics responsible for the transmission of normal and abnormal characters in humans. Being able to draw and interpret human pedigrees, and to efficiently counsel patients and families about the nature of genetic disease, as well as to assess recurrence and occurrence of reproductive genetic risks (genetic counselling). Knowledge of the basic calculations of gene/allele frequencies in populations.
This course is addressed to the students of the second year of Medicine and is intended to:
1. Lead the student to deepen its knowledge on the complexity of genomic DNA and on the processes that underlie gene regulation and its expression.
2. Train the student to understand the scientific method, by discussing experiments allowing the comprehension of new knowledge in Molecular Biology.
3. Acquire full understanding of recombinant DNA principles and technologies and their applications in Medicine.
Module: MEDICAL GENETICS
- General Genetics. Mendel’s laws in man (dominant, recessive, X-linked and mitochondial inheritance) and atypical inheritance patterns. Example of mendelian diseases.
- Diseases due to unstable tripleat expansion.
- General and medical cytogenetics. Standard and pathological human karyotype. Chromosome anomalies, numerical and structural. Microdeletions disorders.
- Epigenentics and genomic imprinting. Uniparental Disomy. Cytogenetic pre- and post-natal diagnosis.
- Mutations, mutagenesis and DNA repair.
- Complex (Multifactorial) inheritance: Genetic susceptibility to complex diseases. Genome scans and genome association studies (GWAS).
- Exome, Genome, Transcriptome: definition and analysis. Bioinformatics and Genomics.
- Clinical Genetics: Genetic Counselling. Pedigree drawing and interpretation. Genetic risks estimation. Pre and post-natal counseling. Prenatal and Preimplantation Genetic Diagnosis. Prevention and treatment of genetic disease. Genetic testing: diagnostic, symptomatic and asymptomatic testing, screening. Gene therapy. Regenerative medicine: stem cells. Bioethical and social issues.
Module: MOLECULAR GENETICS
- Human Genome Organization. DNA polymorphisms.
- Gene mapping. Linkage analysis.
- Mutation identification and molecular diagnosis of genetic diseases.
- Population genetics: Assessment of allelic and genotypic frequencies. Hardy-Weinberg Law. Factors disturbing H-W equilibrium.
- Examples of genetic diseases study: Inherited disorders of hemoglobin. Cystic Fibrosis
- Cancer genetics.
Module: MOLECULAR BIOLOGY
• Structure and conformations of DNA
• Complexity of genomic DNA • DNA structure in chromosomes • DNA replication
• DNA repair
• Transcription in prokaryotes and eukaryotes
• Maturation of RNA
• Genetic Code
• Regulation of gene expression in prokaryotes
• Regulation of gene expression in eukaryotes
• Degradation and trafficking of proteins
• DNA recombinant technology and recombinant DNA
• Molecular evolution
• An outline of gene therapy
Supplementary educational materials will be made available during the course on the University e-learning platform
In order to pass he whole exam, students should demonstrate to have learned the necessary knowledges listed in the programme, e to demonstrate skills in exposing thei arguments in a critical and precise way, using an appropriate scientific language.
Each academic year includes 6 exam sessions, arranged as follows: two exams in the winter session, at the end of the Course, two exams in the Summer session, and two exams in the Autumn session.
Each exam is made of two parts, each part passable separately within the same academic year: Molecular Biology (6CFU) and Molecular/Medical Genetics (tiotal 9CFU). Each part consists of a written test of mutiple choice questions, open questions and exercises, followed by an oral test (provided the written test is passed). The exam is passed if the score in each part is equal to or greater than 18/30; the final cumulative score, in thirtieths (.../30), is calculated from the weighted average of the scores of two modules. Students who pass only one part of the exam are allowed to take the other part only in the next sessions, provided they are within the same academic year.
|Amaldi, Benedetti, Pesole, Plevani
|R. F. Weaver
|WATSON James D , BAKER Tania A , BELL Stephen P , GANN Alexander , LEVINE Michael , LOSICK Richard
||Biologia molecolare del gene
|Neri G. e Genuardi M.
||Genetica Umana e Medica
||EDRA LSWR - Masson
|Strachan T. and Read A.
||Human Molecular Genetics
||Garland Science (CRC press)
||Eserciziario di Genetica