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


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.


CONCLUSIONS
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.
Chen
Shyue-Ru
SR
Section of Neuromuscular Disorders, Department of Neurology, Chang Gung Memorial Hospital and University, 199 Tun Hwa North Road, Taipei 10591, Taiwan.
Lin
Kon-Ping
KP
Kuo
Hung-Chou
HC
Chen
Chiung-Mei
CM
Hsieh
Sung-Tsang
ST
Lee
Ming-Jen
MJ
Yang
Chih-Chao
CC
Liu
Chin-San
CS
Huang
Chin-Chang
CC
Lyu
Rong-Kuo
RK
Ro
Long-Sun
LS
D016022:Case-Control Studies; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis* / Q000235:genetics; D017353:Gene Deletion; D020440:Gene Duplication; D005820:Genetic Testing / Q000379:methods; D015417:Hereditary Sensory and Motor Neuropathy / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D018895:Microsatellite Repeats / Q000235:genetics*; D009185:Myelin Proteins / Q000032:analysis*; D016133:Polymerase Chain Reaction / Q000379:methods*; D012016:Reference Values; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity
D009185:Myelin Proteins; C073687:PMP22 protein, human