[The PIG-A gene as a new biomarker of mutagenesis: proof of concept and technical specifications]
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Updated: Mar 2, 2026

Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells
Published on: February 24, 2014
Pierre Castel1, Xavier Carcopino2, Stéphane Robert3
1Institut Méditerranéen de Biodiversité et d'Écologie (IMBE), équipe Biogénotoxicologie, Santé Humaine et Environnement, Aix-Marseille Université (AMU), CNRS, IRD, Avignon Université, Faculté de Médecine de Marseille, 27, boulevard Jean Moulin, 13005 Marseille, France.
Abstract:
Gene mutations are not directly detected by current genotoxicity assays and most of them need a cell culture step. The whole blood PIG-A assay consists in the detection of the mutation frequency within the PIG-A sentinel gene by identification of glycosyl-phosphatidyl-inositol (GPI-) deficient cells. PIG-A mutated/GPI-deficient cells can be detected by flow cytometry as they no longer express surface fluorescence for GPI-linked markers. The last researches have focused on cell enrichment techniques leading to increased throughput and sensitivity. The results of this new and promising biomarker of mutagenesis, performed in humans or rodents, are now available within 2 hours after blood collection.
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