MOL3001 - Medisinsk genetikk

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Vurderingsordning

Vurderingsordning: Skriftlig eksamen
Karakter: Bokstavkarakterer

Vurderingsform Vekting Varighet Hjelpemidler Delkarakter
Skriftlig eksamen 100/100 4 timer C

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 identification of genes and variants in the genome, including gene mapping, make it possible to understand how variation can lead to disease.

Læringsutbytte

After completing the course MOL3001, the student should be able to:
- describe central examples of monogenic, polygenic and chromosomal disorders
- recognise patterns of mendelian inheritance of monogenic diseases, and explain genetic and biochemical mechanisms of some central monogenic disorders
- describe and understand mechanisms underlying numerical and structural chromosomal aberrations and principles mediating chromosomal disease
- describe what genetic counselling and risk assessment are
- discuss bioethical issues in medical genetics in an international environment.
- describe and understand central principles and examples of both sporadic and hereditary cancers
- describe and understand principles for methods of genetic diagnosis, i.e. gene tests and cytogenetic methods
- describe and understand principles and methods for gene mapping
- calculate frequencies of genetic variants at individual and population based level

Læringsformer og aktiviteter

Lectures, student presentations, and alternative methods of teaching.
The lectures and the exam will be in English. If few candidates, alternative examination arrangements may be used.

Obligatoriske aktiviteter

  • Godkjent laboratoriekurs

Mer om vurdering

Retake of exam: The student must have completed the mandatory activities and assignments to take the exam. If taken in a previous semester, this is sufficient to take the exam.

Spesielle vilkår

Vurderingsmelding krever godkjent undervisningsmelding samme semester. Obligatorisk aktivitet fra tidligere semester kan godkjennes av instituttet.

Kursmateriell

Will be announced at the start of the course.

Eksamensinfo

Vurderingsordning: Skriftlig eksamen

Termin Statuskode Vurderingsform Vekting Hjelpemidler Dato Tid Rom *
Høst UTS Skriftlig eksamen 100/100 C 05.12.2017 09:00
Vår ORD Skriftlig eksamen 100/100 C
  • * Skriftlig eksamen plasseres på rom 3 dager før eksamensdato.
Hvis mer enn ett rom er oppgitt, finner du ditt rom på Studentweb.