Methodological approaches for detecting somatic gene mutations in humans

Paola Menichini, Angelo Abbondandolo

Research output: Contribution to journalArticle

Abstract

Summary This article describes four methods that are currently used to measure somatic gene mutation frequencies in humans. By these methods, mutants at the hypoxanthine-guanine phosphoribosyltransferase (HPRT) and the HLA-A loci in T-lymphocytes and mutants at the glycophorin A and the hemoglobin loci in red blood cells can be detected. For each test system, the basic genetic and biochemical information is summarized and the technical procedures for mutant detection and isolation are outlined. Techniques used for the molecular characterization of mutants are also described, where applicable. Recent estimates of mutation frequencies are reported for both the general population and groups exposed to radiation or mutagenic substances. New methodological perspectives for the study of somatic mutation in humans are briefly mentioned.

Original languageEnglish
Pages (from-to)75-85
Number of pages11
JournalToxicology Mechanisms and Methods
Volume2
Issue number2
DOIs
Publication statusPublished - 1992

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Keywords

  • GPA
  • Hemoglobin
  • HLA
  • HPRT
  • Somatic mutation

ASJC Scopus subject areas

  • Toxicology
  • Health, Toxicology and Mutagenesis

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