Identifying the disease gene in human monogenic disorders - linkage analysis

6 important questions on Identifying the disease gene in human monogenic disorders - linkage analysis

What are gene mapping strategies?

  • Linkage analysis for monogenic
    • stronly depends on mode of inheritance
    • parametric
    • multigenerational
    • pedigrees
  • linkage analysis for complex
    • non-parametric
  • association analysis
    • parental controls
    • case-control

Digenic dominat disease?

You are only affected or sever affected when you have the two mutations

Differents between linkage and association?

Linkage: scoring only sharing between affected sibs
  • links the diseased with the marker
  • same mutation in one family
association: scoring transmission in both sibs and trios
  • it suspects that the found genes are associated together and teh disease
  • same mutation is seeminly unrelated individuals
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What is a major and minor allel frequency ?

Major allel frequency: most in the population
Minor allel frequency: the variation that comes second in the population, alternative allele

The process of gene indentification using linkage analysis in families?

  • Positional cloning

  1. first you make an pedigree and get genetic samples and markers
  2. linkage analysis
  3. fine mapping
  4. transcription map
  5. mutation analysis

What says the LOD score?

  • Gives you the significance that the marker is close or not to a region. It gives the region you need to investigate futher.
  • thetra =  recombination fraction

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