Methods for detection of point mutations: performance and quality assessment. IFCC Scientific Division, Committee on Molecular Biology Techniques

Clin Chem. 1997 Jul;43(7):1114-28.

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.

Publication types

  • Review

MeSH terms

  • DNA / analysis*
  • DNA / chemistry
  • Electrophoresis / methods
  • Genetic Techniques* / standards
  • Genetic Techniques* / statistics & numerical data
  • Humans
  • Point Mutation*
  • Polymorphism, Genetic
  • Quality Control
  • Sensitivity and Specificity

Substances

  • DNA