两种基于聚合酶链反应的分子方法在中国遗传性运动感觉神经病1A型和遗传性压迫易感性神经病疾病诊断中的比较

Comparison of two PCR-based molecular methods in the diagnosis of CMT 1A and HNPP diseases in Chinese.

作者信息

Chen Shyue-Ru, Lin Kon-Ping, Kuo Hung-Chou, Chen Chiung-Mei, Hsieh Sung-Tsang, Lee Ming-Jen, Yang Chih-Chao, Liu Chin-San, Huang Chin-Chang, Lyu Rong-Kuo, Ro Long-Sun

机构信息

Section of Neuromuscular Disorders, Department of Neurology, Chang Gung Memorial Hospital and University, 199 Tun Hwa North Road, Taipei 10591, Taiwan.

出版信息

Clin Neurol Neurosurg. 2008 May;110(5):466-71. doi: 10.1016/j.clineuro.2008.02.002. Epub 2008 Mar 18.

DOI:10.1016/j.clineuro.2008.02.002

PMID:18353535

Abstract

OBJECTIVES

Current molecular diagnostic methods in detecting Charcot-Marie-Tooth type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsy (HNPP) diseases are either not sensitive or time-consuming and costing. The aims of this study are improving the accuracy and speeding up the diagnosis.

PATIENTS AND METHODS

We developed real-time quantitative PCR (QPCR) and three polymorphic short tandem repeats (STRs) methods to test 53 unrelated CMT1A patients, 12 unrelated HNPP patients and 100 normal control subjects.

RESULTS

QPCR in detection of pmp22 gene duplication (CMT1A) and deletion (HNPP) showed a sensitivity of 100.00% (53/53) and 100.00% (12/12), respectively. And this method also showed a specificity of 100% (100/100) in CMT1A and 100% (100/100) in HNPP, respectively. In contrast, using three polymorphic STRs method showed a sensitivity of 50/53 (94%) in CMT1A and 12/12 (100.00%) of HNPP patients, respectively. And this method showed a specificity of 97% (100/103) in CMT1A and 100% (100/100) in HNPP, respectively.

CONCLUSION

QPCR and three STRs methods both demonstrate a rapid and robust diagnosis with almost complete informativeness. The high sensitivity and heterozygosity of these three polymorphic markers in detecting CMT1A/HNPP subjects of Caucasian and Chinese showed the potential to become pan-ethnic screening markers in the future.

摘要

目的

目前用于检测1A型遗传性运动感觉神经病（CMT1A）和遗传性压力易感性周围神经病（HNPP）的分子诊断方法要么不敏感，要么耗时且成本高。本研究的目的是提高准确性并加快诊断速度。

患者与方法

我们开发了实时定量聚合酶链反应（QPCR）和三种多态性短串联重复序列（STRs）方法，用于检测53例无亲缘关系的CMT1A患者、12例无亲缘关系的HNPP患者和100名正常对照者。

结果

QPCR检测pmp22基因重复（CMT1A）和缺失（HNPP）的敏感性分别为100.00%（53/53）和100.00%（12/12）。该方法在CMT1A中的特异性也分别为100%（100/100），在HNPP中为100%（100/100）。相比之下，使用三种多态性STRs方法检测CMT1A患者的敏感性分别为50/53（94%），HNPP患者为12/12（100.00%）。该方法在CMT1A中的特异性分别为97%（100/103），在HNPP中为100%（100/100）。