title: Methods for detection of point mutations: performance and quality assessment. The 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 (j) 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: D005821:Genetic Techniques; D006801:Humans; D017354:Point Mutation; D011786:Quality Control