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Angela SPARAGO

Insegnamento di HUMAN GENETICS

Corso di laurea magistrale in MOLECULAR BIOTECHNOLOGY

SSD: BIO/18

CFU: 6,00

ORE PER UNITÀ DIDATTICA: 48,00

Periodo di Erogazione: Primo Semestre

Italiano

Lingua insegnamento

INGLESE

Contenuti

The Human Genome and the Chromosomal Basis of Heredity. The Human Genome: Gene Structure and Function. Tools of Human Molecular Genetics. Principles of Clinical Cytogenetics. Patterns of Single-Gene Inheritance. Genetics of Common Disorders with Complex Inheritance. Genetic Variation in Individuals and Populations: Mutation and Polymorphism. Human Gene Mapping and Disease Gene Identification.

Testi di riferimento

Thompson & Thompson. Genetics in Medicine.
Strachan. Human molecular genetics

Obiettivi formativi

The aim of this course is to teach the principles of transmission, modification and expression of heritable traits in human individuals, the main tools of Human Molecular Genetics, the principles of Cytogenetics and Genetic Variation in Individuals and Populations, as well as methods of Human Gene Mapping and Disease Gene Identification.

Prerequisiti

Basic principles of transmission, modification and expression of heritable traits in eukariotic cells.

Metodi didattici

The topics of the course will be treated with the help of Power Point presentations, video clips, classroom or laboratory exercises, reading of scientific articles. Expected learning outcomes: Knowledge and understanding of principles of transmission, modification and expression of heritable traits in human individuals and populations

Modalità di verifica dell'apprendimento

The exam consists in passing a written and oral test. The written test consists of a series of questions with multiple choice questions. Passing the written test will give access to the oral exam. The final grade of the exam will be an average grade between that given in the written and oral exam.

Altre informazioni

The teacher is available for reception students on the days indicated on the card teaching and on request forwarded via email.

Programma esteso

The Human Genome and the Chromosomal Basis of Heredity. The Human Genome: Gene Structure and Function. Tools of Human Molecular Genetics. Principles of Clinical Cytogenetics. Patterns of Single-Gene Inheritance. Genetics of Common Disorders with Complex Inheritance. Genetic Variation in Individuals and Populations: Mutation and Polymorphism. Human Gene Mapping and Disease Gene Identification.

English

Teaching language

English

Contents

The Human Genome and the Chromosomal Basis of Heredity. The Human Genome: Gene Structure and Function. Tools of Human Molecular Genetics. Principles of Clinical Cytogenetics. Patterns of Single-Gene Inheritance. Genetics of Common Disorders with Complex Inheritance. Genetic Variation in Individuals and Populations: Mutation and Polymorphism. Human Gene Mapping and Disease Gene Identification.

Textbook and course materials

Thompson & Thompson. Genetics in Medicine.
Strachan. Human molecular genetics

Course objectives

The aim of this course is to teach the principles of transmission, modification and expression of heritable traits in human individuals, the main tools of Human Molecular Genetics, the principles of Cytogenetics and Genetic Variation in Individuals and Populations, as well as methods of Human Gene Mapping and Disease Gene Identification.

Prerequisites

Basic principles of transmission, modification and expression of heritable traits in eukariotic cells.

Teaching methods

The topics of the course will be treated with the help of Power Point presentations, video clips, classroom or laboratory exercises, reading of scientific articles. Expected learning outcomes: Knowledge and understanding of principles of transmission, modification and expression of heritable traits in human individuals and populations

Assessment methods

The exam consists in passing a written and oral test. The written test consists of a series of questions with multiple choice questions. Passing the written test will give access to the oral exam. The final grade of the exam will be an average grade between that given in the written and oral exam.

Other information

The teacher is available for reception students on the days indicated on the card teaching and on request forwarded via email.

Detailed syllabus

The Human Genome and the Chromosomal Basis of Heredity. The Human Genome: Gene Structure and Function. Tools of Human Molecular Genetics. Principles of Clinical Cytogenetics. Patterns of Single-Gene Inheritance. Genetics of Common Disorders with Complex Inheritance. Genetic Variation in Individuals and Populations: Mutation and Polymorphism. Human Gene Mapping and Disease Gene Identification.

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