ParkScreen: a low-cost rapid linkage marker panel for Parkinson's disease.

J Mol Neurosci 2009 Sep 25;39(1-2):235-41. Epub 2009 Mar 25.

Institute of Genetic Medicine, European Academy Bozen/Bolzano (EURAC), Affiliated Institute of the University Lübeck, Germany, Viale Druso 1, 39100, Bolzano/Bozen, Italy.

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.

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http://dx.doi.org/10.1007/s12031-009-9193-8DOI Listing
September 2009
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