title: Comparison of single-strand conformation polymorphism and heteroduplex analysis for detection of mutations in Charcot-Marie-Tooth type 1 disease and related peripheral neuropathies.
abstract: To compare the sensitivity of the mutation detection techniques single-strand conformation polymorphism analysis (SSCP) and heteroduplex analysis (HA), we analyzed a cohort of 73 patients with a diagnosis of a demyelinating neuropathy, but without the CMT1A duplication, for mutations in the coding region of the myelin genes PMP22, MPZ and Cx32. In total, 21 samples showed 13 distinct altered migration patterns by one or both methods. Ten altered patterns were detected by both SSCP and HA, two were false negative by HA, and one was false negative by SSCP. Our results suggest that either technique can be useful for mutation detection, but a combination of factors appears to affect the sensitivity of both techniques.
authors.affiliation: Department of Biochemistry, University of Antwerp, Belgium.
authors.forename: E
authors.initials: E
authors.lastname: Nelis
authors.forename: L E
authors.initials: LE
authors.lastname: Warner
authors.forename: E D
authors.initials: ED
authors.lastname: Vriendt
authors.forename: P F
authors.initials: PF
authors.lastname: Chance
authors.forename: J R
authors.initials: JR
authors.lastname: Lupski
authors.forename: C
authors.initials: C
authors.lastname: Van Broeckhoven
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D015331:Cohort Studies; D017630:Connexins / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods; D003711:Demyelinating Diseases / Q000235:genetics*; D005069:Evaluation Studies as Topic; D014644:Genetic Variation; D006801:Humans; D009154:Mutation; D018993:Myelin P0 Protein / Q000235:genetics; D009185:Myelin Proteins / Q000235:genetics; D009692:Nucleic Acid Heteroduplexes; D018807:Polymorphism, Single-Stranded Conformational; D012680:Sensitivity and Specificity; D000097002:Gap Junction beta-1 Protein
chemical_list: D017630:Connexins; D018993:Myelin P0 Protein; D009185:Myelin Proteins; D009692:Nucleic Acid Heteroduplexes; D000097002:Gap Junction beta-1 Protein; C073687:PMP22 protein, human