Fanconi's anemia: a cytogenetic study on lymphocyte and bone marrow cultures utilizing 1,2:3,4-diepoxybutane

Fanconi's anemia (FA) is an autosomal recessive genetic trait characterized by congenital abnormalities, pancytopenia with a late onset, and increased chromosome instability. A great deal of heterogeneity exists in the disease, making an early correct diagnosis very difficult. Previously chromosome instability was used as a diagnostic tool but was found to be unreliable. Auerbach et al. have described the use of a difunctional alkylating agent, 1,2:3,4-diepoxybutane (DEB), in lymphocyte, fibroblast, and amniotic fluid cultures for the accurate diagnosis of homozygotes and heterozygotes for the FA gene. We report here the findings on lymphocyte and bone marrow cultures from 18 FA homozygotes and 17 family members. Statistical analysis of the results with DEB at different concentrations showed a significant increase in induced chromosome breakage rates for homozygotes and heterozygotes when compared to those for a control group. The bone marrow cultures gave similar results.