title: Methods for detection of point mutations: performance and quality assessment. IFCC Scientific Division, Committee on Molecular Biology Techniques.
abstract: We give an overview of current methods for the detection of point mutations as well as small insertions and deletions in clinical diagnostics. For each method, the following characteristics are specified: (a) principle, (b) major modifications, (c) maximum fragment size that can be analyzed, (d) ratio and type of mutations that can be detected, (e) minimum ratio of mutant to wild-type alleles at which mutations can be detected, and (f) detection methods. Special attention is paid to the possibilities of quality assessment and the potential for standardization and automation.
authors.affiliation: Department of Clinical Chemistry, University Hospital Eppendorf, Hamburg, Germany.
authors.forename: P
authors.initials: P
authors.lastname: Nollau
authors.forename: C
authors.initials: C
authors.lastname: Wagener
mesh_terms: D004247:DNA / Q000032:analysis* / Q000737:chemistry; D004586:Electrophoresis / Q000379:methods; D005821:Genetic Techniques / Q000592:standards / Q000706:statistics & numerical data; D006801:Humans; D017354:Point Mutation; D011110:Polymorphism, Genetic; D011786:Quality Control; D012680:Sensitivity and Specificity
chemical_list: D004247:DNA