Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15
Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15
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DOI：
10.1006/geno.1999.6028
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发表时间：
1999-12-15
期刊：
影响因子：
4.4
通讯作者：
Vance, JM
中科院分区：
文献类型：
--
作者：
Ben Othmane, K;Johnson, E;Vance, JM
常染色体隐性遗传性腓骨肌萎缩症 4B 型 (CMT4B) 是一种脱髓鞘遗传性运动和感觉神经病，其特征是髓鞘异常折叠。 CMT4B 的一个基因座先前已被映射到意大利南部谱系中的染色体 11q23，我们最初排除了两个突尼斯家庭中 CMT4B 与染色体 11q23 的连锁，证明了 CMT4B 表型内的遗传异质性，随后，在最大的突尼斯谱系中使用纯合性作图和连锁分析，我们将一个新基因座映射到染色体 11p15，最大两点 lod 得分使用标记 D11S1329 获得 6.05。重组事件将 CMT4B 基因座区域细化至标记 D11S1331 和 D11S4194 之间的 5.6 cM 间隔。第二个突尼斯 CMT4B 家族被排除在与新基因座的连锁之外，这表明至少存在 CMT4B 表型的第三个基因座。 (C) 1999 年学术出版社。
Autosomal recessive Charcot-Marie-Tooth disease type 4B (CMT4B) is a demyelinating hereditary motor and sensory neuropathy characterized by abnormal folding of myelin sheaths. A locus for CMT4B has previously been mapped to chromosome 11q23 in a southern Italian pedigree, We initially excluded linkage in two Tunisian families with CMT4B to chromosome 11q23, demonstrating genetic heterogeneity within the CMT4B phenotype, Subsequently, using homozygosity mapping and linkage analysis in the largest Tunisian pedigree, we mapped a new locus to chromosome 11p15, A maximum two-point lod score of 6.05 was obtained with the marker D11S1329. Recombination events refined the CMT4B locus region to a 5.6-cM interval between markers D11S1331 and D11S4194. The second Tunisian CMT4B family was excluded from linkage to the new locus, demonstrating the existence of at least a third locus for the CMT4B phenotype. (C) 1999 Academic Press.