MEDICAL GENETICS
cod. 14441

Learning objectives

To give the bases for the understanding of the strategies for the prenatal diagnosis of the main genetic diseases

Prerequisites

• DNA structure and replication
• Chromosome structure and human karyotype
• Gene structure, transcription and maturation of the mRNA.
• Protein structure. Structure and function of the enzymes
• Phenotypic variation at the cellular, tissue and individual level
• Genetic polymorphisms
• Mendelian inheritance in man
• Principles of population genetics
• Mutations as cause of variability
• Gene mutations. Types, location and genetic analysis
• Molecular mechanisms of the genetic mutations and their consequences for the synthesis and structure of the proteins
• Chromosomal aneuploidies and their pathogenetic mechanism

Course unit content

Applications of Medical Genetics to Obstetrics: the prenatal diagnosis of genetic diseases

Full programme

1. Invasive prenatal diagnosis
a. Definition and classification of the genetic tests into diagnostic and pre-sintomatic
1. New Regional law regulating the access to the prenatal diagnosis (August 2017)
2. Cytogenetics: indications and procedures for amniocentesis and chorionic villi
3. Prenatal genetic testing: indications and procedures
4. Pre-implantation diagnosis

2. Mosaicisms and their consequences
a. Definition
b. Types of mosaicisms for the analysis of amniotic liquid and chorionic villi:
i. True fetal mosaicism
ii. pseudomosaicism.
c. The uniparental disomy (UPD) as a rescue mechanism of a trisomy: the pre-zygotic errors
d. Clincal cases: trisomy 20, 22 and 12
3. The chromosomal structural abnormalities: reciprocal and robertsonian translocations an risks of unbalancement

4. The supernumerary markers in prenatal diagnosis

5. CGH arrays: indications in prenatal diagnosis

6. Non-invasive prenatal testing (NIPT)

7. Prenatal genetic counseling: characteristics and objectives

Bibliography

Thompson & Thompson: GENETICS IN MEDICINE. Elsevier, Eight Edition, 2016

Teaching methods

Lectures

Assessment methods and criteria

Multiple choice questionnaries

Other information

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2030 agenda goals for sustainable development