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ParkScreen: A Low-Cost Rapid Linkage Marker Panel for Parkinson’s Disease

Authors :
Cristian Pattaro
Claudia B. Volpato
Irene Pichler
Alessandro De Grandi
Elisa Bedin
Peter P. Pramstaller
Andrew Antony Hicks
Giorgio Casari
Fabio Marroni
De Grandi, A
Volpato, Cb
Bedin, E
Pattaro, C
Marroni, F
Pichler, I
Hicks, Aa
Casari, GIORGIO NEVIO
Pramstaller, Pp
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.

Details

ISSN :
15591166 and 08958696
Volume :
39
Database :
OpenAIRE
Journal :
Journal of Molecular Neuroscience
Accession number :
edsair.doi.dedup.....cfaf89def9c3387937dea0a43e81ce69