河南地区两个腓骨肌萎缩症家系PMP22基因突变研究  

A study of PMP22 gene mutation in two families with Charcot-Marie-Tooth disease in Henan,China

作　　者：陈祖芝[1] 任志霞[1] 史晓红[1] 李书剑[1] 时英英[1] 张杰文[1] 向莉[1] CHEN Zu-Zhi REN Zhi-Xia SHI Xiao-Hong LI Shu-Jian SHI Ying-Ying ZHANG Jie-Wen XIANG Li.(People＇s Hospital of Zhengzhou University, Zhengzhou 450003, Chin)

机构地区：[1]郑州大学人民医院(原河南省人民医院),河南省郑州市450003

出　　处：《国际神经病学神经外科学杂志》2016年第4期287-291,共5页Journal of International Neurology and Neurosurgery

基　　金：河南省科技厅重点科技攻关计划(092102310084)

摘　　要：目的分析在河南地区两个腓骨肌萎缩症(CMT)家系的临床表现及PMP22基因重复突变的特点。方法收集两家系中21名成员的临床资料,并应用等位基因特异性PCR-双酶切方法检测17p11.2-1 PMP22基因重复(即1760 bp片段)序列的情况,同时选择50名健康人做为对照。结果两家系中共14名成员经等位基因特异性PCR-双酶切方法检测出PMP22基因大片重复(即1760 bp片段)序列;家系一患病者有3名(Ⅱ5、Ⅱ7、Ⅲ11),无临床症状但基因检测结果示PMP22基因重复突变为携带者有6名(Ⅱ9、Ⅲ6、Ⅲ8、Ⅲ10、Ⅳ1、Ⅳ2);家系二患病者有4名(Ⅱ3、Ⅱ9、Ⅱ11、Ⅲ7),携带者只有Ⅲ5。两家系中余7人及健康对照50人均未检测出上述重复突变。结论 PCR-双酶切法检测PMP22特异性基因重复序列在早期诊断CMT有重要价值。Objective To investigate the clinical manifestations of two families with Charcot-Marie-Tooth（ CMT） disease and the characteristics of PMP22 gene duplication mutation in the Henan,China. Methods The clinical data of 21 members of the two families were collected,and allele-specific polymerase chain reaction（ PCR） combined with double restriction-enzyme digestion was used to detect 17p11. 2- 1 PMP22 gene duplication（ i. e.,1760 bp segment）. A total of 50 healthy volunteers were enrolled as the control group. Results In these two families,14 members had PMP22 gene duplication（ i. e.,1760 bp segment） detected by allele-specific PCR combined with double restriction-enzyme digestion. In the first family,three members（ Ⅱ5,Ⅱ7,Ⅲ11） had this disease,and the results of gene detection showed 6 carriers of PMP22 gene duplication mutation（ Ⅱ9,Ⅲ6,Ⅲ8,Ⅲ10,Ⅳ1,Ⅳ2）,although they had no clinical symptoms. In the second family,four members（Ⅱ3,Ⅱ9,Ⅱ11,Ⅲ7） had this disease and there was only one carrier（Ⅲ5）. The above duplication mutation was not detected in the other 7 members or 50 healthy controls. Conclusions PCR-double restriction-enzyme digestion for the detection of PMP22 gene duplication plays an important role in the early diagnosis of CMT.

关 键 词：腓骨肌萎缩症 PMP22基因重复突变 PCR-双酶切法 

分 类 号：R746.4[医药卫生—神经病学与精神病学]