Chen S.-R.Lin K.-P.Kuo H.-C.Chen C.-M.SUNG-TSANG HSIEHMING-JEN LEEYang C.-C.Liu C.-S.Huang C.-C.Lyu R.-K.Ro L.-S.2020-11-032020-11-0320080303-8467https://www.scopus.com/inward/record.uri?eid=2-s2.0-43049159672&doi=10.1016%2fj.clineuro.2008.02.002&partnerID=40&md5=8586d196ebf1b4fba27dd6e10f5fcbebhttps://scholars.lib.ntu.edu.tw/handle/123456789/519576Objectives: 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. ? 2008 Elsevier B.V. All rights reserved.[SDGs]SDG3peripheral myelin protein 22; article; Chinese; controlled study; diagnostic accuracy; diagnostic test; gene deletion; gene duplication; genetic marker; hereditary motor sensory neuropathy; hereditary neuropathy with liability to pressure palsy; heterozygosity; human; human tissue; intermethod comparison; neuropathy; real time polymerase chain reaction; sensitivity and specificity; short tandem repeat; Case-Control Studies; Charcot-Marie-Tooth Disease; Gene Deletion; Gene Duplication; Genetic Screening; Hereditary Motor and Sensory Neuropathies; Humans; Microsatellite Repeats; Myelin Proteins; Polymerase Chain Reaction; Reference Values; Reproducibility of Results; Sensitivity and Specificityjournal article10.1016/j.clineuro.2008.02.002183535352-s2.0-43049159672