Hung C.-C.CHIEN-NAN LEELin C.-Y.WEN-FANG CHENGCHI-AN CHENCHIH-CHAO YANGJong Y.-J.Su Y.-N.SUNG-TSANG HSIEHWin-Li Lin2020-02-262020-02-262008-020173-0835https://scholars.lib.ntu.edu.tw/handle/123456789/464842We evaluated the efficacy of PCR-RFLP, competitive multiplex PCR, and a commercially available system of multiplex ligation-dependent probe amplification (MLPA) for the determination of deletion and duplication genotypes ofthe PMP22 gene. We compared the methods for efficiency, sensitivity, and specificity. We determined the gene dosage ofthe PMP22 gene via PCR-RFLP, competitive multiplex PCR, and MLPA. To demonstrate the sensitivity and accuracy of these three methods, a total of 185 samples from 42 patients with hereditary neuropathy with liability to pressure palsies (HNPP), 57 patients with Charcot-Marie-Tooth disease type 1A (CMT1A), and 86 unaffected individuals, were analyzed. Molecular diagnosis by PCR-RFLP was performed on all 185 samples; 24 HNPP deletions and 33 CMT1A duplications were identified. In contrast, 25 HNPP deletions and 38 CMT1A duplications were identified correctly using competitive multiplex PCR and MLPA. Six samples were incorrectly identified by PCR-RFLP (one HNPP deletion and five CMT1A duplications). Competitive multiplex PCR and MLPA demonstrated reliability and relative speed compared to PCR-RFLP; they were superior to PCR-RFLP for gene dosage quantification. Multiplex PCR and MLPA should be the methods of choice for detection of deletion and duplication genotypes in molecular genetic diagnoses. ? 2008 Wiley-VCH Verlag GmbH & Co. KGaA, Weinheim.[SDGs]SDG3DNA; fibroblast growth factor receptor 2; peripheral myelin protein 22; article; capillary electrophoresis; controlled study; diagnostic accuracy; diagnostic error; gene amplification; gene deletion; gene dosage; gene duplication; genetic variability; hereditary motor sensory neuropathy; human; intermethod comparison; major clinical study; multiplex ligation dependent probe amplification; multiplex polymerase chain reaction; neuropathy; nucleotide sequence; polymerase chain reaction; quantitative analysis; reliability; restriction fragment length polymorphism; sensitivity and specificity; Case-Control Studies; Charcot-Marie-Tooth Disease; Gene Deletion; Gene Dosage; Gene Duplication; Genotype; Hereditary Motor and Sensory Neuropathies; Humans; Molecular Probe Techniques; Myelin Proteins; Nucleic Acid Amplification Techniques; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Lengthjournal article10.1002/elps.200700340182006362-s2.0-39449091574