CareLit Fachartikel

A new locus for restless legs syndrome maps to chromosome 4q

J Winkelmann, P Lichtner, B Puetz, S Hauk, C Trenkwalder, T Strom, T Meitinger, B Müller-Myhsok · Aktuelle Neurologie · 2005 · Heft 10

Dokument
1163495
CareLit-ID
Jahr
2005
Publikation
PDF
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Metadaten
DOI
ja
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Bibliografische Angaben

Zeitschrift
Aktuelle Neurologie
Autor:innen
J Winkelmann, P Lichtner, B Puetz, S Hauk, C Trenkwalder, T Strom, T Meitinger, B Müller-Myhsok
Ausgabe
Heft 10 / 2005
Seiten
–
Erschienen: 2005-10-26 00:00:00
ISSN
0302-4350

Zusammenfassung

Three loci for RLS on chromosomes 12q, 14q and 9p (RLS-1, RLS-2 and RLS-3) have been mapped, with a recessive and autosomal-dominant mode of inheritance, respectively, but no gene has been identified so far. Investigations of further RLS families showed that there is evidence for genetic locus heterogeneity. We have conducted a genome-wide linkage analysis in a large RLS family using 400 STR markers. Linkage analysis was performed using an autosomal dominant model with a complete penetrance for homo- and heterozygotes an allele frequency of 0.003, and a phenocopy rate of 0.005. Linkage analysis revealed a new lo…

Schlagworte

Chromosomes Allele Aktuelle Neurologie