一腓骨肌萎缩症家系临床及基因分析

目的分析一腓骨肌萎缩症家系的临床表现及不同基因检测方法的特点。方法收集一CMT家系8名成员临床资料,并应用等位基因特异性PCR-双酶切方法及多重连接依赖的探针扩增技术(MLPA)检测PMP22基因突变情况,同时选择60名性别、年龄无明显差异的健康人做为对照组。结果该家系中患病者以行走不稳、跨阈步态,伴有弓形足为主要临床表现。该家系中5名成员经等位基因特异性PCR-双酶切及MLPA方法均检测出PMP22基因重复序列,其中出现临床症状的有4名(Ⅱ3、Ⅱ9、Ⅱ11、Ⅲ7),未出现临床症状但基因检测结果示PMP22基因重复序列的为携带者有1名(Ⅲ5),家系中余3名成员及对照组60名均未见重复序列。结论基因检测在明确CMT诊断中起重要作用,且MLPA法筛查基因时操作更简便、灵敏度更高、特异性更好。

Clinical and genetic analyses of a family of Charcot-Marie-Tooth disease

Objective To investigate the clinical manifestations of a family of Charcot-Marie-Tooth (CMT) disease and the features of different gene detection methods.Methods Related clinical data were collected from 8 members of a family of CMT disease, and allele-specific PCR/double-enzyme digestion and multiplex ligation-dependent probe amplification (MLPA) were used to detect PMP22 gene mutation. A total of 60 healthy volunteers with no significant differences in sex and age were enrolled as control group.Results Ataxia, steppage gait, andclawfoot were the major clinical manifestations in this family. Five members of this family were found to have repeated sequence in the PMP22 gene by allele-specific PCR/double-enzyme digestion, among whom four members had clinical symptoms (II3, II9, II11, and III7) and one (III5) had no clinical symptoms but was found to carry repeated sequence in the PMP22 gene by gene detection. No repeated sequence was observed in the other three members and the control group.Conclusions Gene detection has an important value in clarifying the diagnosis of CMT disease, and MLPA for gene screening has the advantages of convenient and simple operation, high sensitivity, and good specificity.