Molecular Pathology of Hereditary Neuropathy

对211个遗传性神经病家系进行分析，发现有36个家系存在17p 11.2重复，7个家系存在17p 11.2缺失，3个家系存在外周髓鞘蛋白22基因突变，11个家系存在连接蛋白32基因突变。3名患者因服用长春新碱而出现症状。与国外资料相比，由染色体17p 11.2重复引起的家系较少，且多数家系病因不明。我们研究了1例女性患者，表现为常染色体隐性遗传或散发的Charcot-Marie-Tooth病1。我们分离了人外周神经系统电压门控钠通道α亚基SCN8A的基因，作为夏科-玛丽-图斯病的候选基因，我们分析了髓鞘相关糖蛋白基因作为候选基因，但在这些家系中未发现该突变。MAG基因似乎与肿瘤的病理状态无关。

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.