title: SSCP analysis: a blind sensitivity trial.
abstract: Studies of the sensitivity of SSCP analysis usually have been performed under conditions contrary to the rules of quality control trials and have produced widely different results. We have performed a blind trial of the sensitivity of SSCP analysis for the detection of mutations in fragments up to 500 bp in length under a fixed single set of electrophoretic conditions. The mutation detection rate was 84%. In addition, we have identified a second mutation in nine samples. All these mutations are polymorphisms, including a novel polymorphism 1248 + 52T/C first reported in the present work.
authors.affiliation: Laboratory of Molecular Pathology, University Hospital of Obstetrics, Sofia, Bulgaria.
authors.forename: A
authors.initials: A
authors.lastname: Jordanova
authors.forename: L
authors.initials: L
authors.lastname: Kalaydjieva
authors.forename: A
authors.initials: A
authors.lastname: Savov
authors.forename: M
authors.initials: M
authors.lastname: Claustres
authors.forename: M
authors.initials: M
authors.lastname: Schwarz
authors.forename: X
authors.initials: X
authors.lastname: Estivill
authors.forename: D
authors.initials: D
authors.lastname: Angelicheva
authors.forename: A
authors.initials: A
authors.lastname: Haworth
authors.forename: T
authors.initials: T
authors.lastname: Casals
authors.forename: I
authors.initials: I
authors.lastname: Kremensky
mesh_terms: D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D004247:DNA / Q000032:analysis; D004252:DNA Mutational Analysis / Q000379:methods*; D004591:Electrophoresis, Polyacrylamide Gel; D005069:Evaluation Studies as Topic; D006801:Humans; D009154:Mutation; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D012680:Sensitivity and Specificity; D017422:Sequence Analysis, DNA
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA