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不宁腿综合征(RLS)的遗传学:现状与未来方向。

Genetics of restless legs syndrome (RLS): State-of-the-art and future directions.

作者信息

Winkelmann Juliane, Polo Oli, Provini Federica, Nevsimalova Sonja, Kemlink David, Sonka Karel, Högl Birgit, Poewe Werner, Stiasny-Kolster Karin, Oertel Wolfgang, de Weerd Al, Strambi Luigi Ferini, Zucconi Marco, Pramstaller Peter P, Arnulf Isabelle, Trenkwalder Claudia, Klein Christine, Hadjigeorgiou Georgios M, Happe Svenja, Rye David, Montagna Pasquale

机构信息

Institute of Human Genetics, GSF-National Research Center for Environment and Health, Munich, Germany.

出版信息

Mov Disord. 2007;22 Suppl 18:S449-58. doi: 10.1002/mds.21587.

Abstract

Several studies demonstrated that 60% of restless legs syndrome (RLS) patients have a positive family history and it has been suggested that RLS is a highly hereditary trait. To date, several loci have been mapped but no gene has been identified yet. Phenocopies and possible nonpenetrants made it difficult to detect a common segregating haplotype within the families. Defining the exact candidate region is hampered by possible intrafamilial, allelic, and nonallelic heterogeneity. One important prerequisite for future successful genetic studies in RLS is the availability of large and thoroughly phenotyped patients and family samples for linkage as well as association studies.

摘要

多项研究表明,60%的不宁腿综合征(RLS)患者有阳性家族史,有人提出RLS是一种高度遗传性特征。迄今为止,已定位了多个基因座,但尚未鉴定出任何基因。拟表型和可能的非外显者使得在家族中难以检测到常见的分离单倍型。家族内、等位基因和非等位基因的异质性使得确定确切的候选区域变得困难。未来RLS成功开展遗传学研究的一个重要前提是要有大量经过全面表型分析的患者和家族样本用于连锁及关联研究。

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