Due to the COVID-19 crisis, the information below is subject to change,
in particular that concerning the teaching mode (presential, distance or in a comodal or hybrid format).
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
Due to the COVID-19 crisis, the information in this section is particularly likely to change.
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
Due to the COVID-19 crisis, the information in this section is particularly likely to change.
The student should show his-her acquired knowledge in following situations :during the exam (multiple choice questions, open questions with short response).
This assessment is based on a series of multiple-choice questions covering all the material given during the course - 5 proposals / 2 only correct - no negative point. If the student has chosen 0 or only 1 of the correct answers, or more than 2 answers, no point is awarded. Scores are rounded up to the next highest grade if > or equal to 0.5 (e.g. 12,5 becomes 13), except for grades between 9.5 and <10 which are rounded to 9.
Bibliography
Robert L. Nussbaum, Roderick R. McInnes, Huntington F. Willard. Genetics in Medicine
Editeur: Thompson & Thompson, 8e édition, Elsevier, (2016)
- Syllabus (Notes de cours vérifié)(iCampus)
- Dias du cours (iCampus)
et
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)
Editeur: Thompson & Thompson, 8e édition, Elsevier, (2016)
- Syllabus (Notes de cours vérifié)(iCampus)
- Dias du cours (iCampus)
et
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)
Teaching materials
- Robert L. Nussbaum, Roderick R. McInnes, Huntington F. Willard. Genetics in Medicine Editeur: Thompson & Thompson, 8e édition, Elsevier, (2016).
Faculty or entity
MED
