APPLIED CLINICAL GENETICS

Università degli Studi
"G. d'Annunzio"

Chieti - Pescara

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General Module

Course Sheet

Course code:

TL31C2A

Academic Year of enrolment:

2018

Year of supply:

2020/2021

Type of Course:

Characterising

Degree:

Course of 1st Cycle Degree in BIOMEDICAL LABORATORY TECHNIQUES

Disciplinary Sector:

Medical Genetics

Is part of:

CLINICAL BIOCHEMISTRY AND CLINICAL GENETICS

Location:

CHIETI

Credits:

Programme Year:

Professor and Collaborators:

GUANCIALI FRANCHI Paolo Emilio

Cycle:

First semester

Obligatory attendance:

Yes

Hours of classroom activity:

Individual study hours:

Prerequisites:

Basic knowledge of genetics.

Objectives

Students should know the laws of inheritance, the structure and functions of DNA and chromosomes, mutations and genetic diseases, the main chromosomal syndromes, the main techniques of molecular biology and cytogenetics and their practical applications.

Contents

The laws of inheritance, structure and functions of DNA and chromosomes, mutations and genetic diseases, major chromosomal syndromes.

Extended Syllabus

-Nucleic acids. DNA and RNA, structure, synthesis and duplication. Chromatin, heterochromatin, euchromatin.
- Gene structure. Protein synthesis, genetic code, regulation of gene expression.
-Cytogenetics. Cytogenetic techniques and their applications, normal human karyotype.
- Chromosomal abnormalities. Numerical and structural alterations of chromosomes. Main chromosomal syndromes. Chromosomal alterations and spontaneous abortions.
- Invasive and non-invasive prenatal diagnosis.
- Mendel laws. Autosomal dominant and recessive inheritance, heterosomal inheritance, mitochondrial inheritance. Polygenic inheritance. Particularity of the Mendel laws.
-Mutations. Point mutations, frameshift, dynamics. Chemical and physical mutagens.
- Molecular biology techniques and their applications. Gene cloning.
- Oncogens and oncosuppressors.

Recommended Bibliography

Clementi. Elementi di Genetica Medica.
Edises.
Slides will be provided to the students.

Teaching Methods

Frontal lessons

Evaluation methods

Verification of learning:

Oral examination

Contacts/More Information

Università degli Studi
"G. d'Annunzio"

Chieti - Pescara

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