Molecular Pathology of Hereditary Neuropathy

我们分析了211个遗传性神经病变家系，发现36个家系染色体17p 11.2重复，7个家系染色体17p 11.2缺失，3个家系外周血髓磷脂蛋白22基因（PMP22）突变，11个家系连接蛋白32基因突变。3例患者经长春新碱治疗后出现症状。与国外资料相比，因17p11.2染色体重复而导致的家系较少，且大多数家系未确定病因。我们研究了一名女性患者，她表现为常染色体隐性或散发的1型沙科-玛丽-图斯病（CMT1）。她有包含外周髓鞘蛋白22基因（PMP22）的染色体17p11.2缺失和PMP22的Arg 157 Gly突变。我们分离了人SCN8A的cDNA，这是一个电压门控钠通道α亚基特异性外周神经系统作为沙科-玛丽-牙病的候选者。我们分析了髓鞘相关糖蛋白（MAG）基因作为未知来源的家系候选基因，但在这些家系中未检测到突变。MAG基因似乎与病理状态无关。

We analyzed 211 pedigrees with hereditary neuropathies and found 36 pedigrees with a duplication of chromosome 17p 11.2, 7 pedigrees with a deletion of chromosome 17p 11.2, 3 pedigrees with peripheral myelin protein 22 gene (PMP22) gene mutation, and 11 pedigrees with connexin 32 gene mutation. Three patients became symptomatic by vincristine administration. Compared with the data from foreign countries, the pedigrees due to a duplication of chromosome 17p 11.2 were few and most pedigrees were not identified their etiologies.We studied a female patient who presented with autosomal recessive or sporadic Charcot- Marie-Tooth disease type 1 (CMT1). She had a deletion of chromosome 17p 11.2 containing the peripheral myelin protein 22 gene (PMP22) and an Arg 157 Gly mutation of PMP22.We isolated the cDNA of human SCN8A, which is a voltage-gated sodium channel α subunits specific for peripheral nervous system as a candidate for Charcot-Marie-Tooth disease.We analyzed the myelin associated glycoprotein (MAG) gene as a candidate for the pedigrees due to unknown origin, however, the mutation was not detected in those pedigrees. MAG gene seems not be associated with pathological states.