MOLECULAR GENETICS AND DIAGNOSTIC TECHNIQUES

Università degli Studi
"G. d'Annunzio"

Chieti - Pescara

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General Module

Course Sheet

Course code:

TL31C2F

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:

Laboratory Medicine Techniques

Is part of:

CLINICAL BIOCHEMISTRY AND CLINICAL GENETICS

Location:

CHIETI

Credits:

Programme Year:

Professor and Collaborators:

CURIA Maria Cristina

Cycle:

First semester

Obligatory attendance:

Yes

Hours of classroom activity:

Individual study hours:

Prerequisites:

None

Objectives

Provide students with cognitive and methodological tools for a better understanding of the most innovative diagnostic and/or therapeutic aspects.

Contents

Lessons on the methods of molecular biology used for the diagnosis of the main genetic diseases

Extended Syllabus

The Human Genome Project
Post-genomic era: DNA sequencing
DNA sequence variations: Single Nucleotide Polymorphism (SNP), Short Sequence Repeats (SSR), Copy Number Variation (CNV)
Applications of the Human Genome Project: multifactorial inheritance and genetic diseases
Online Mendelian Inheritance in Man (OMIM)
Patogenetic mutations: Cancer Genome Landscapes by Vogelstein
Genetic alterations in the progression of CRC: the VOGELGRAM
Familial predisposition in colorectal cancer: Familial Adenomatous Polyposis (FAP), MUTYH-associated polyposis (MAP), Hereditary Non Polyposis Colorectal Cancer (HNPCC)
Main methods of molecular biology useful for the diagnosis of genetic diseases: mutational analysis by DHPLC, multiplex-PCR, sequencing analysis, promoter methylation analysis

Recommended Bibliography

Reading materials provided by the teacher

Teaching Methods

The theoretical knowledge will be acquired through the attendance to lessons, integrated with the study of recommended texts, handouts and material provided by teachers

Evaluation methods

Verification of learning:

The exam consists of an oral test

Contacts/More Information

Prof.ssa Maria Cristina Curia
Tel: 0871-3554103 E-mail mariacristina.curia@unich.it
Student reception hours: from Monday to Friday from 11 to 12 at the Nuovo Polo Didattico, Building C, IIIrd floor.

Università degli Studi
"G. d'Annunzio"

Chieti - Pescara

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