Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing
Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing
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DOI：
10.1093/hmg/5.7.1051
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发表时间：
1996-07-01
影响因子：
3.5
通讯作者：
Devoto, M
中科院分区：
文献类型：
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作者：
Bolino, A;Brancolini, V;Devoto, M
遗传性运动和感觉神经病(HMSN)伴局灶性折叠髓鞘，或Charcot-Marie-Tooth 4B型(CMT4B)，属于常染色体隐性遗传性脱髓鞘神经病的一种不同的临床实体。我们首先描述了一个大的CMT4B家系，表现出高血缘水平和常染色体隐性遗传模式，通过传统的连锁分析，我们排除了该家系中分离的基因与其他HMSN的任何已知基因的连锁。利用纯合子作图和单倍型共享分析，我们能够将该疾病基因定位在染色体11q23上D11S1332和D11S917基因座之间4 cM的区间内。根据该病的临床特征，我们推测该基因座对应于CMT4B基因。
Hereditary motor and sensory neuropathy (HMSN) with focally folded myelin sheaths, or Charcot-Marie-Tooth type 4B (CMT4B), is a distinct clinical entity belonging to the heterogeneous group of autosomal recessive demyelinating neuropathies. We first described a large pedigree with CMT4B, which showed a high consanguinity level and an autosomal recessive pattern of inheritance, Through conventional linkage analysis, we excluded linkage of the locus segregating in this pedigree to any of the known genes responsible for other HMSNs. Using homozygosity mapping and haplotype sharing analysis, we were able to localize the disease gene in a 4 cM interval on chromosome 11q23, between the D11S1332 and D11S917 loci. On the basis of the clinical characteristics of the disease, we propose that this locus corresponds to the CMT4B gene.