Emne - Medisinsk genetikk - MOL3001
Medisinsk genetikk
Om
Om emnet
Faglig innhold
The course will give an overview of mechanisms for development of genetic diseases. Topics include different patterns of inheritance, like dominant, recessive, autosomal and sex linked inheritance. Genetic diseases will be classified in single-gene, chromosomal and multifactorial disorders. It will be discussed how identifying of genes and variants in the genome, including gene mapping, make it possible to see how variation can led to disease.
Læringsutbytte
Overall objective: The student should know central principles in genetics and know how these are used in clinical applications.
Sub objectives: The student should be able to:
- Know patterns of monogenic and polygenic inheritance
- Know genetic and biochemical mechanisms of genetic diseases
- Know some central examples of monogenic disorders
- Know some central examples of multifactorial disorders
- Know consequences of genetic variation (mutations and polymorphisms) at the individual and population based level
- Know methods for genetic diagnosis (gene tests)
- Know principles and methods for gene mapping
- Know cytogenetic methods as karyotyping, Fluorescence in situ hybridization (FISH) and Comparative genome hybridization (CGH), and their applications in diagnosis of chromosome disorders
- Know some central examples of chromosome disorders
- Know central principles and examples in cancer genetics, including sporadic and hereditary cancers
- Know what genetic counselling and risk assessment are, and know how genetic counselling are regulated by law in Norway
- Describe central terms like:
o Autosomal and sex linked inheritance
o Recessive and dominant inheritance
o Mendelian inheritance
o Genotype/phenotype
o Gain-of-function and loss-of-function mutations
o Genomic imprinting
o Anticipation and triplet repeat diseases
o Haplotype
o Hardy-Weinberg equilibrium
o Knudsons two hit hypothesis
Læringsformer og aktiviteter
Lectures, student presentations, laboratory course and PBL. The lectures and the exam will be in English. The examination may change to an oral exam if few students register.
Obligatoriske aktiviteter
- Godkjent laboratoriekurs
Anbefalte forkunnskaper
Biochemistry and basic genetics
Kursmateriell
Thompson and Thompson: Genetics in medicine, Laboratory compendium, Set of exercises (Problem Based Learning, PBL )
Studiepoengreduksjon
| Emnekode | Reduksjon | Fra |
|---|---|---|
| TBT4146 | 5 sp |
Fagområder
- Biokjemi
- Biologi
- Bioteknologi/Molekylærgenetikk
- Cellebiologi
- Kjemi
- Medisin
- Molekylærmedisin
Kontaktinformasjon
Emneansvarlig/koordinator
- Marit Walbye Anthonsen
- Wenche Sjursen
Faglærere
- Frank Skorpen
- Marit Walbye Anthonsen
- Wenche Sjursen