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Founder mutation p.R1441C in the leucine-rich repeat kinase 2 gene in Belgian Parkinson’s disease patients Presented by:  Pearl Pfiester 12.10.08
LRRK2  Gene ,[object Object],[object Object],[object Object]
Why study  LRRK2  Gene? ,[object Object],[object Object],[object Object],[object Object],[object Object]
Objective ,[object Object]
Signal Transduction ,[object Object],[object Object],[object Object],[object Object]
Subjects ,[object Object],[object Object],[object Object]
Gene Sequencing ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Haplotype Analysis ,[object Object],[object Object],[object Object]
Results ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Results Reported and novel coding mutations in the LRRK2 Roc and kinase domains.  Symbols:  red stars  = putative pathogenic missense mutations detected in the Flanders-Belgian PD population (6 out of 10 carriers) green stars  = novel rare variants (4 out of 10 carriers) yellow stars  = known polymorphisms
Data on protein conservation of all coding mutations in the LRRK2 Roc and kinase domains
Results for p.R1441C ,[object Object],[object Object]
Results ,[object Object],[object Object],[object Object]
Results for p.R1441C ,[object Object],[object Object],[object Object],[object Object],[object Object]
Results for p.R1441C
Results:  Allele and Haplotype Analysis for p.R1441C
Results for Novel Mutations
Results for Novel Mutations
Conclusion ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
 

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Founder mutation in Parkinson's disease presented on 12/10/08

  • 1. Founder mutation p.R1441C in the leucine-rich repeat kinase 2 gene in Belgian Parkinson’s disease patients Presented by: Pearl Pfiester 12.10.08
  • 2.
  • 3.
  • 4.
  • 5.
  • 6.
  • 7.
  • 8.
  • 9.
  • 10. Results Reported and novel coding mutations in the LRRK2 Roc and kinase domains. Symbols: red stars = putative pathogenic missense mutations detected in the Flanders-Belgian PD population (6 out of 10 carriers) green stars = novel rare variants (4 out of 10 carriers) yellow stars = known polymorphisms
  • 11. Data on protein conservation of all coding mutations in the LRRK2 Roc and kinase domains
  • 12.
  • 13.
  • 14.
  • 16. Results: Allele and Haplotype Analysis for p.R1441C
  • 17. Results for Novel Mutations
  • 18. Results for Novel Mutations
  • 19.
  • 20.