18例腓骨肌萎缩症患者的遗传学研究  

Genetic Studies on 18 Patients with Charcot-Marie-Tooth Disease

作　　者：潘晓丽[1] 潘志宏[2] 张楠楠[1] 高红[3] 姜英[1] 马秀娟[1] 孟季红[1] 孙秀凤[1] 

机构地区：[1]中国医科大学附属盛京医院神经功能室,沈阳110004 [2]沈阳市红十字会医院骨科,沈阳110013 [3]中国医科大学附属盛京医院先天畸形实验室,沈阳110004

出　　处：《中国医科大学学报》2008年第4期474-476,共3页Journal of China Medical University

基　　金：辽宁省教育厅科研基金资助项目(20060941);沈阳市科技局科研基金资助项目(2005-45)

摘　　要：目的探讨腓骨肌萎缩症(CMT)的遗传学改变特点。方法联合应用PCR-双酶切分析检测CMT病人17p11.2-12上的基因重复,同时结合DNA直接测序方法进行Cx32基因突变分析。共检测18例CMT病人和10例正常健康对照者。结果18例病人中11例检测出1760bp片段,占61,1%。正常对照组未检测到此片段。Cx32基因突变检测发现18例中4例有异常电泳带(22.2%),均为基因重复检测阴性者。其中3例来自同一家系,为X-连锁遗传,另1例为散发家系。DNA序列测定结果:在2个家系的先证者中发现2种新突变。联合两种方法检出率为83.3%(15/18)。结论PCR-双酶切是快速、准确的临床诊断方法,联合Cx32基因突变分析可提高检出率。Objective To study the genetic characteristics of Charcot-Marie-Tooth （CMT）disease. Methods Polymerase chain reaction （PCR） combined with restriction enzyme digestion was used to detect gene duplication on chromosome 17p11.2-12 in 18 CMT patients and 10 controls. Mutation analysis of Cx32 gene was also perfonned. Results 61.1% （11/18）of CMT patients were identified to have specific junction fragments （1760bp）. Duplication was not identical in the controls. Two different new mutations were found in the coding region of Cx32 in 4 patients （22.2%） who were not identified to have the dupheation. One patient was from a sporadic family,and the other three patients were from an X-linked inherited family. Mis-sense mutation and point mutation in exon 2 of Cx32 gene were proved by DNA sequencing analysis. The detecting rate was 83.3%（15/18）by using both methods. Conclusion The PCR combined with restriction enzyme digestion is a relatively sensitive and accurate method for detecting gene duplication in CMT cases for clinical diagnosis. The detecting rate can be increased by using both restriction enzyme digestion of PCR products and mutation analysis of Cx32 gene.

关 键 词：腓骨肌萎缩症 PCR-双酶切分析 Cx32基因突变 

分 类 号：R746.4[医药卫生—神经病学与精神病学]