Note from June 29, 2020
Although we do not yet know how long the social distancing related to the Covid-19 pandemic will last, and regardless of the changes that had to be made in the evaluation of the June 2020 session in relation to what is provided for in this learning unit description, new learnig unit evaluation methods may still be adopted by the teachers; details of these methods have been - or will be - communicated to the students by the teachers, as soon as possible.
Although we do not yet know how long the social distancing related to the Covid-19 pandemic will last, and regardless of the changes that had to be made in the evaluation of the June 2020 session in relation to what is provided for in this learning unit description, new learnig unit evaluation methods may still be adopted by the teachers; details of these methods have been - or will be - communicated to the students by the teachers, as soon as possible.
2 credits
20.0 h
Q2
Teacher(s)
Vikkula Miikka;
Language
French
Prerequisites
The prerequisite(s) for this Teaching Unit (Unité d’enseignement – UE) for the programmes/courses that offer this Teaching Unit are specified at the end of this sheet.
Content
1. DNA - carrier of genetic information
2. Cytogenetics: low-resolution genome analysis
2.1. Normal karyotype
2.2. Abnormal karyotype
3. Types of polymorphisms
3.1. Vocabulary: polymorphism, gene, allele, homozygous, heterozygous
3.2. Genome in a single (<10) copy (haploid genome)
3.3. Genome moderetly repetitive
3.4. Genome strongly repetitive
3.5. Other polymorphisms
3.6. Calculation of heterozygosity
4. Methods to detect genetic markers (polymorphisms)
4.1. Southern blot
4.2. PCR amplification
4.3. Molecualr karyotyping (DNA arrays)
4.4. Sequencing
4.5. Next Generation Sequencing (NGS)
5. Transmission of hereditary characters
(Laws of Mendel)
5.1. How to draw a genealogic tree in genetics - symbols
5.2. Types of heredity
5.3. Independent and non-independent segregation
6. Use of polymorphisms
6.1. Genetic maps
6.2. Identification of an individual
6.3. Linkage analysis
6.4. Autozygosity analysis
6.5. Association studies
6.6. Loss-of-heterozygosity analyses
7. Other parameters of heredity
7.1. de novo mutations
7.2. Factors to modify the phenotype
7.3. Law of Hardy-Weinberg
7.4. eQTL
7.5. Personalised medecine
2. Cytogenetics: low-resolution genome analysis
2.1. Normal karyotype
2.2. Abnormal karyotype
3. Types of polymorphisms
3.1. Vocabulary: polymorphism, gene, allele, homozygous, heterozygous
3.2. Genome in a single (<10) copy (haploid genome)
3.3. Genome moderetly repetitive
3.4. Genome strongly repetitive
3.5. Other polymorphisms
3.6. Calculation of heterozygosity
4. Methods to detect genetic markers (polymorphisms)
4.1. Southern blot
4.2. PCR amplification
4.3. Molecualr karyotyping (DNA arrays)
4.4. Sequencing
4.5. Next Generation Sequencing (NGS)
5. Transmission of hereditary characters
(Laws of Mendel)
5.1. How to draw a genealogic tree in genetics - symbols
5.2. Types of heredity
5.3. Independent and non-independent segregation
6. Use of polymorphisms
6.1. Genetic maps
6.2. Identification of an individual
6.3. Linkage analysis
6.4. Autozygosity analysis
6.5. Association studies
6.6. Loss-of-heterozygosity analyses
7. Other parameters of heredity
7.1. de novo mutations
7.2. Factors to modify the phenotype
7.3. Law of Hardy-Weinberg
7.4. eQTL
7.5. Personalised medecine
Teaching methods
Teaching is based on lectures (total 20 hours). It relies on the development of theoretical concepts, but also on the description of concrete examples of genetic diseases and genetic analyses.
Evaluation methods
The student should show his-her acquired knowledge in following situations :
During the exam (multiple choice questions, open questions with short response, true/false questions).
The book Pasternak conteins questions and the book Thompson & Thompson questions and answers for self-learning after each chapter.
During the exam (multiple choice questions, open questions with short response, true/false questions).
The book Pasternak conteins questions and the book Thompson & Thompson questions and answers for self-learning after each chapter.
Bibliography
Jack Pasternak : Génétique moléculaire humaine :
une introduction aux mécanismes des maladies héréditaires
Editeur: De Boek (2003) Chapitres: 1-3(p.3-80), 5.1, 5.4, 5.6, 5.7, 6 (p.161-183)
et
Robert L. Nussbaum, Roderick R. McInnes, Huntington F. Willard. Genetics in Medicine
Editeur: Thompson & Thompson, 7e édition (2007)
- Syllabus (Notes de cours vérifié)(iCampus)
- Dias du cours (iCampus)
une introduction aux mécanismes des maladies héréditaires
Editeur: De Boek (2003) Chapitres: 1-3(p.3-80), 5.1, 5.4, 5.6, 5.7, 6 (p.161-183)
et
Robert L. Nussbaum, Roderick R. McInnes, Huntington F. Willard. Genetics in Medicine
Editeur: Thompson & Thompson, 7e édition (2007)
- Syllabus (Notes de cours vérifié)(iCampus)
- Dias du cours (iCampus)
Teaching materials
- Robert L. Nussbaum, Roderick R. McInnes, Huntington F. Willard. Genetics in Medicine Editeur: Thompson & Thompson, 7e édition (2007)
Faculty or entity
MED
