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

VernacularTitle: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
Author: Wanjin CHEN ; Danni WANG ; Jin HE ; Liuqing XU ; Wei HU ; Ning WANG
Publication Type:Journal Article
Keywords: Arthrogryposis; Hereditary sensory and motor neuropathy; Multiplex polymerase chain reaction
From: Chinese Journal of Neurology 2015;48(1):23-27
CountryChina
Language:Chinese
Abstract: 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.