Génétique humaine

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. Counting of heterozygosity
4. Methods to detect genetic markers (polymorphisms)
4.1. Southern blot
4.2. PCR amplification
4.3. Molecular 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

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.