中文摘要：

不宁腿综合征（Restless legs syndrome，RLS）遗传学研究近年来获得了许多重要的进展，极大地丰富了对于这种疾病分子机制的认识。RLS是一种常见的复杂疾病，几个遗传流行病学和双生子研究对RLS遗传组分进行了剖析，说明RLS是一个遗传性很强的性状，其遗传力约为50％。采用基于模型的连锁分析方法或者是不依赖于模型的连锁分析方法目前已定位了5个重要的RLS疾病连锁位点：12q13-23，14q13—21，9p24—22，2q33和20p13，为定位克隆RLS致病基因或者易感基因提供了连锁图谱。最新基于高通量的SNPs分型平台开展的全基因组分析确立3个与RLS显著关联的区域：6p21．2，2p14和15q23。文章结合作者近年来从事不宁腿综合征遗传学的研究工作，对该领域的重要成果进行了汇总和评述。

英文摘要：

Recent advances in genetic studies on restless legs syndrome （RLS） have led to a series of important discoveries that greatly expand our knowledge on the molecular basis of this disease. RLS is a common and complex disease. Several genetic epidemiological studies and twin studies have characterized the genetic components of RLS and suggest that it is a highly heritable trait with heritability estimates of about 50%. The five chromosomal positions （12q13-23, 14q13-21, 9p24-22, 2q33, and 20p13） have been determined either by model-based linkage analysis or by model-free linkage analysis, which have provided the linkage maps for positional cloning of the underlying genes or susceptibility genes for this disorder Most recent genome-wide association studies based on high-throughput SNP genotyping platforms have also defined three significantly associated RLS regions （6p21.2, 2p 14, and 15q23）. By integrating with our recent genetic studies for this neurological disorder, we reviewed the most important findings achieved in genetic studies of RLS.