Genetic linkage of Welander distal myopathy to chromosome 2p13
Genetic linkage of Welander distal myopathy to chromosome 2p13
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DOI：
10.1002/1531-8249(199909)46:3
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发表时间：
1999-09-01
影响因子：
11.2
通讯作者：
Anvret, M
中科院分区：
文献类型：
--
作者：
Åhlberg, G;von Tell, D;Anvret, M
Welander远端肌病（WDM）是一种常染色体显性遗传性肌病，以远端肌无力的缓慢进展为特征。这种疾病被认为是遗传性远端肌病的典型疾病，几乎只在瑞典和芬兰的一些地区出现。在最初的两个瑞典家庭进行了全基因组筛选，具有400个高度多态性的微卫星标记。我们在这里报告说，这种疾病与染色体2p13有关。7个额外的非相关的家庭随后被映射到同一地区，其中最大的两个点的LOD得分为17.97，获得了标记D2S2113在0.0重组分数。该地区已被限制重组和发现一个共同的共享单倍型通过所有分析的家庭。这将基因座区域限制在2.4cM。这些研究结果提供了证据参与一个单一的位点WDM。WDM区域与Miyoshi肌病和肢带型肌营养不良症2B的连锁区域重叠。负责这些疾病的dysferlin基因被认为是WDM的主要候选基因。
Welander distal myopathy (WDM) is an autosomal dominant myopathy with late-adult onset characterized by slow progression of distal muscle weakness. The disorder is considered a model disease for hereditary distal myopathies and is almost only seen in Sweden and some parts of Finland. A genomewide screening has been performed in initially two Swedish families with 400 highly polymorphic microsatellite markers. We report here that the disease is linked to chromosome 2p13. Seven additional nonrelated families have subsequently been mapped to the same area where a maximum two-point LOD score of 17.97 was obtained with the marker D2S2113 at 0.0 recombination fraction. The region has been restricted by recombinations and the finding of a common shared haplotype through all analyzed families. This restricts the gene locus region to 2.4 cM. These findings provide evidence for the involvement of a single locus for WDM. The WDM region overlaps with the linkage region for Miyoshi myopathy and limb-girdle muscular dystrophy 2B. The dysferlin gene responsible for these disorders is considered a primary candidate gene for WDM.