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Related Experiment Video

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A population study using the human erythrocyte PIG-A assay.

Yiyi Cao1, Li Yang2, Nannan Feng1

  • 1Hongqiao International Institute of Medicine, Faculty of Public Health, Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China.

Environmental and Molecular Mutagenesis
|September 2, 2016
PubMed
Summary

The PIG-A assay detects mutagenic agent exposure in humans using red blood cells (RBCs). This study establishes baseline mutant frequencies (MFs) in the general population, noting higher MFs in males and a slight increase with smoking history.

Keywords:
PIG-A assayflow cytometerhuman populationred blood cellssomatic mutation

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Area of Science:

  • Biomonitoring
  • Genotoxicity
  • Human Population Studies

Background:

  • The PIG-A assay is a sensitive tool for detecting mutagenic exposure in animal models.
  • Limited data exists on PIG-A assay application and baseline mutant frequencies in human populations.
  • CD59 phenotypic variants in red blood cells (RBCs) serve as a biomarker for PIG-A gene mutations.

Purpose of the Study:

  • To establish baseline CD59-deficient RBC (RBCCD59-) frequencies in a general human population.
  • To investigate potential correlations between mutant frequencies (MFs) and demographic/lifestyle factors.
  • To assess the stability and repeatability of MFs in individuals over time.

Main Methods:

  • Employed a method to detect CD59 phenotypic variants in human RBCs.
  • Quantified CD59-deficient RBC (RBCCD59-) frequencies in 217 subjects.
  • Analyzed MFs in relation to age, sex, smoking status, and cigarette-pack-years.
  • Conducted intraindividual variation studies over 300 days.
  • Performed a pilot study using FLAER-labeled white blood cell (WBC) assay.

Main Results:

  • Established baseline MFs in the general population (average 5.25 × 10-6).
  • Males exhibited significantly higher MFs than females.
  • No correlation found between MFs and age or smoking status (except a slight elevation with cigarette-pack-years).
  • MFs demonstrated stability and repeatability within individuals over 300 days.
  • Pilot WBC assay showed elevated MFs in two subjects, consistent with RBC findings.

Conclusions:

  • Provides essential baseline data for human PIG-A assay applications.
  • Highlights sex as a factor influencing MFs in the general population.
  • Supports the utility of the PIG-A assay for monitoring genotoxic effects in humans.