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ParkScreen: A Low-Cost Rapid Linkage Marker Panel for Parkinson’s Disease
- Source :
- Journal of Molecular Neuroscience. 39:235-241
- Publication Year :
- 2009
- Publisher :
- Springer Science and Business Media LLC, 2009.
-
Abstract
- A genetic marker screening panel, ParkScreen, optimized for simultaneous marker amplification, was constructed to test or exclude linkage in families with parkinsonism or Parkinson's disease, using only a few affected individuals per family. ParkScreen functionality was proven by detection of linkage to PARK2 in a family with known Parkin mutations, exclusion of linkage to several of the known loci, and detection of suggestive linkage to PARK8, PARK3, and PARK11 in some families. In a novel approach, we also tested the ability of ParkScreen to screen patients originating from isolated populations. Using apparently sporadic patients from geographically isolated Alpine villages, suggestive linkage to PARK11 was found in one village. ParkScreen is a useful and inexpensive tool that allows the rapid screening of patients in families suitable for clinical follow-up and further characterization in order to identify specific mutations or novel genes. A genetic marker screening panel, ParkScreen, optimized for simultaneous marker amplification, was constructed to test or exclude linkage in families with parkinsonism or Parkinson's disease, using only a few affected individuals per family. ParkScreen functionality was proven by detection of linkage to PARK2 in a family with known Parkin mutations, exclusion of linkage to several of the known loci, and detection of suggestive linkage to PARK8, PARK3, and PARK11 in some families. In a novel approach, we also tested the ability of ParkScreen to screen patients originating from isolated populations. Using apparently sporadic patients from geographically isolated Alpine villages, suggestive linkage to PARK11 was found in one village. ParkScreen is a useful and inexpensive tool that allows the rapid screening of patients in families suitable for clinical follow-up and further characterization in order to identify specific mutations or novel genes. © Humana Press 2009.
- Subjects :
- Genetic Markers
Male
Ubiquitin-Protein Ligase
Parkinson's disease
Genetic Linkage
Ubiquitin-Protein Ligases
Disease
Biology
Parkin
Novel gene
Cellular and Molecular Neuroscience
Linkage studie
Genetic linkage
Indirect genetic diagnosi
Genetic Marker
Female, Genetic Linkage, Genetic Markers, Genetic Predisposition to Disease, Genetic Testing
economics/methods, Humans, Lod Score, Male, Parkinson Disease
diagnosis/genetics, Pedigree, Ubiquitin-Protein Ligases
medicine
Humans
Genetic Predisposition to Disease
Genetic Testing
PD familie
Genetics
Linkage (software)
economics/methods
Parkinsonism
Parkinson Disease
General Medicine
medicine.disease
PD loci
Pedigree
Population isolate
Genetic marker
Female
Lod Score
diagnosis/genetics
Human
Subjects
Details
- ISSN :
- 15591166 and 08958696
- Volume :
- 39
- Database :
- OpenAIRE
- Journal :
- Journal of Molecular Neuroscience
- Accession number :
- edsair.doi.dedup.....cfaf89def9c3387937dea0a43e81ce69