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

Articolo
Data di Pubblicazione:
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.
Tipologia CRIS:
1.1 Articolo in rivista
Keywords:
Indirect genetic diagnosis; Linkage studies; PD families; PD loci; Population isolate; Female; Genetic Predisposition to Disease; Humans; Lod Score; Male; Pedigree; Ubiquitin-Protein Ligases; Genetic Linkage; Genetic Markers; Genetic Testing; Parkinson Disease; Cellular and Molecular Neuroscience
Elenco autori:
De Grandi, A; Volpato, Cb; Bedin, E; Pattaro, C; Marroni, F; Pichler, I; Hicks, Aa; Casari, GIORGIO NEVIO; Pramstaller, Pp
Autori di Ateneo:
CASARI GIORGIO NEVIO
Link alla scheda completa:
https://iris.unisr.it/handle/20.500.11768/13038
Pubblicato in:
JOURNAL OF MOLECULAR NEUROSCIENCE
Journal
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