Kwon J M, Elliott J L, Yee W C, Ivanovich J, Scavarda N J, Moolsintong P J, Goodfellow P J
Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA.
Am J Hum Genet. 1995 Oct;57(4):853-8.
Charcot-Marie-Tooth disease (CMT) is the most common inherited motor and sensory neuropathy. The neuronal form of this disorder is referred to as Charcot-Marie-Tooth type II disease (CMT2). CMT2 is usually inherited as an autosomal dominant trait with a variable age at onset of symptoms associated with progressive axonal neuropathy. In some families, the locus that predisposes to CMT2 has been demonstrated to map to the distal portion of the short arm of chromosome 1. Other families with CMT2 do not show linkage with 1p markers, suggesting genetic heterogeneity in CMT2. We investigated linkage in a single large kindred with autosomal dominant CMT2. The gene responsible for CMT2 in this kindred (CMT2B) was mapped to the interval between the microsatellite markers D3S1769 and D3S1744 in the 3q13-22 region. Study of additional CMT2 kindreds should serve to further refine the disease gene region and may ultimately lead to the identification of a gene defect that underlies the CMT2 phenotype.
夏科-马里-图斯病（CMT）是最常见的遗传性运动和感觉神经病变。这种疾病的神经元形式被称为夏科-马里-图斯II型病（CMT2）。CMT2通常作为常染色体显性性状遗传，症状出现的年龄各不相同，伴有进行性轴索性神经病变。在一些家族中，已证明易患CMT2的基因座定位于1号染色体短臂的远端部分。其他患有CMT2的家族未显示与1p标记连锁，这表明CMT2存在遗传异质性。我们对一个常染色体显性CMT2的大型家系进行了连锁研究。该家系中导致CMT2的基因（CMT2B）定位于3q13 - 22区域的微卫星标记D3S1769和D3S1744之间的区间。对其他CMT2家系的研究应有助于进一步细化疾病基因区域，并最终可能导致确定构成CMT2表型基础的基因缺陷。
