Cytokinesis-blocked micronucleus assay in a group of Egyptian patients with Fanconi anemia

Abstract

Middle East Journal of Medical Genetics 2012, 1:76–79 Introduction Fanconi anemia (FA) is one of the chromosomal instability syndromes characterized by a DNA repair defect. Cells derived from patients are hypersensitive to DNA crosslinking agents. In addition to the chromosomal breakages as a manifestation of the genomic instability, a few studies have detected elevated levels of micronuclei (MN) in patients with FA. The cytokinesis-blocked micronucleus (CBMN) assay was originally developed as a comprehensive test for measuring MN; however, it can also be used to measure nucleoplasmic bridges and nuclear buds. Aim The aim of this work is to determine the value of CBMN as a biomarker of genomic instability in patients with FA and its relation to their hematological findings. Patients and methods CBMN assay was performed to analyze leukocytes from 12 patients with FA and eight normal individuals as controls to determine the sensitivity of this technique for the evaluation of genomic instability in patients with FA. The CBMN assay was performed for cultures with and without diepoxybutane. The patients with FA showed significantly high frequencies of MN, nuclear buds, and dicentric bridges. Conclusion From the results of this study, we can conclude that the CBMN assay in fact represents a comprehensive method to evaluate the genomic instability of patients with FA. It can also be used as an indicator for the hematological condition of the patients.