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B020216 - MEDICAL GENETICS
Main information
Teaching Language
Course Content
Suggested readings
Learning Objectives
Teaching Methods
Type of Assessment
Course program
Academic Year 2016-17
Course year
First year - First Semester
Belonging Department
Surgery and Transfer Medicine (DCMT)
Modulo di sola Frequenza of
Scientific Area
MED/03 - MEDICAL GENETICS
Credits
1
Teaching Hours
12
Teaching Term
03/10/2016 ⇒ 30/04/2018
Attendance required
No
Type of Evaluation
Giudizio Finale
Course Content
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Course program
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Lectureship
Mutuality
Course teached as:
B020135 - GENETICA MEDICA
3-years First Cycle Degree (DM 270/04) in DIETISTIC
B020135 - GENETICA MEDICA
3-years First Cycle Degree (DM 270/04) in DIETISTIC
Teaching Language
Italian
Course Content
Human genome organization. Cytogenetics: normal and pathological karyotype. Mendelian and non mendelian inheritance. Genetic polymorphism and mutations. Multifactorial inheritance. Genetic testing and prenatal diagnosis.
Suggested readings (Search our library's catalogue)
Novelli Giardina: Genetica Medica Pratica Ed. Aracne
Learning Objectives
At the end of the course the students are expected to be able to:
* describe the human genome organization and the processes of mitosis and meiosis;
* discuss the structure and function of chromosomes; describe the normal karyotype; numerical and structural chromosomal abnormalities; understand the prognostic implications of these chromosomal rearrangements;
* discuss the Mendelian pedigree patterns and multifactorial diseases;
* describe DNA structure, genome organisation and genetic mechanisms which result in sequence exchanges
Teaching Methods
Lectures on various topics covered in the program
Type of Assessment
Multiple-choice test
Course program
DNA structure. Mitosis and meiosis. Differences between oogenesis and spermatogenesis.
Human chromosomes. Normal human karyotype. Chromosomes classification and cytogenetics nomenclature. Chromosome heteromorphism definition.
Numerical and structural chromosomal abnormalities.
Mendelian pedigree patterns. Mitochondrial DNA, inheritance and matrilinear pedigree pattern
Multifactorial nonmendelian characters. quantitative and semi-quantitative traits. Genetic susceptibility and threshold models. Twin studies. Familial aggregation studies
DNA point mutations: nonsense, missense frameshift e splice site mutations
Genetic testing and prenatal diagnosis