Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a South Tyrolean population isolate
Linkage analysis identifies a novel locus for restless legs syndrome on chromosome 2q in a South Tyrolean population isolate
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DOI：
10.1086/507875
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发表时间：
2006-10-01
影响因子：
9.8
通讯作者：
Pramstaller, Peter P.
中科院分区：
文献类型：
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作者：
Pichler, Irene;Marroni, Fabio;Pramstaller, Peter P.
不宁腿综合征 (RLS) 是一种常见的神经系统疾病，迄今为止描述了三个基因座（12q、14q 和 9p），但尚未鉴定出这些基因。我们报告了对南蒂罗尔（意大利）的人群分离株（n = 530）中评估的 RLS 患者（n = 37）的全基因组连锁扫描。使用非参数和参数分析，我们最初获得了 2q 染色体上新基因座的暗示性证据，以及 5p 和 17p 染色体上连锁的名义证据。后续基因分型产生了显着的关联证据（非参数 LOD 评分 5.5，P
Restless legs syndrome (RLS) is a common neurological condition with three loci (12q, 14q, and 9p) described so far, although none of these genes has yet been identified. We report a genomewide linkage scan of patients with RLS (n = 37) assessed in a population isolate (n = 530) of South Tyrol ( Italy). Using both nonparametric and parametric analyses, we initially obtained suggestive evidence of a novel locus on chromosome 2q, with nominal evidence of linkage on chromosomes 5p and 17p. Follow-up genotyping yielded significant evidence of linkage (nonparametric LOD score 5.5, P