应用多重连接依赖性探针扩增技术快速诊断遗传性压力敏感性周围神经病  

Rapid diagnosis of hereditary neuropathy with liability to pressure palsies by multiplex ligation-dependent probe amplification

作　　者：陈万金[1] 王丹妮[1] 何瑾[1] 许柳青[1] 胡微[1] 王柠[1] 

机构地区：[1]福建医科大学附属第一医院神经内科,福州350005

出　　处：《中华神经科杂志》2015年第1期23-27,共5页Chinese Journal of Neurology

基　　金：国家自然科学基金资助项目（81322017）;国家临床重点专科建设项目;福建省自然科学基金杰出青年基金资助项目（2012J06016）;福建省高等学校新世纪优秀人才支持计划（JA12129）;福建省临床重点专科建设项目

摘　　要：目的 介绍多重连接依赖性探针扩增（multiplex ligation-dependent probe amplification,MLPA）技术在遗传性压力敏感性周围神经病（hereditary neuropathy with liability to pressure palsies,HNPP）患者基因诊断中的应用.方法 应用MLPA技术检测8例临床拟诊为HNPP患者及5名健康对照者的周围髓鞘蛋白22（peripheral myelin protein 22,PMP22）基因、筑丝蛋白3基因及细胞色素c氧化酶组装蛋白10（cytochrome c oxidase assembly protein 10,COX10）基因外显子拷贝数.结果 7例临床拟诊的HNPP患者所检测的PMP22基因、筑丝蛋白3基因及COX10基因各外显子峰面积较健康对照明显减低,各基因的拷贝数为1,提示为大片段杂合缺失;另1例临床拟诊的HNPP患者所检测的PMP22基因、筑丝蛋白3基因及COX10基因峰面积正常,各基因拷贝数为2,未发现杂合缺失.结论 MLPA技术能快速、准确地对HNPP患者的HNPP相关基因进行定量分析,可用于HNPP患者的快速基因诊断.Objective To introduce the application of multiplex ligation-dependent probe amplification （MLPA） assays in the diagnosis of patients with hereditary neuropathy with liability to pressure palsies （HNPP）.Methods Copy numbers of the exons in peripheral myelin prolein 22 （PMP22） gene,tektin 3 （TEKT3） gene and cytochrome c oxidase assembly protein 10 （COX10） gene were analyzed by MLPA in 8 patients diagnosed with HNPP clinically and 5 normal controls.Results Among the 8 patients,7 patients were identified to have deletion mutations according to their reduced peak area of PMP22 gene,TEKT3 gene and COX10 gene compared with that of normal controls.One patient with normal peak area of PMP22 gene,TEKT3 gene and COX10 gene showed no deletion of these genes.Conclusions MLPA assays can detect the copy numbers of genes in HNPP region through semi-quantitative analysis in a rapid,accurate way,which may be utilized widely in the genetic diagnosis among HNPP patients.

关 键 词：关节挛缩 遗传性感觉和运动神经病 多重聚合酶链式反应 

分 类 号：R745[医药卫生—神经病学与精神病学]