Fanconi anemia: a statistical evaluation of cytogenetic results obtained from South African families

Fanconi anemia (FA) is a rare autosomal recessive genetic disorder showing progressive bone marrow failure, and Various phenolypic abnormalities. The lymphocytes show an increased sensitivity to the clastogenic agents diepoxy butane (DEB) or mytomycin C (MMC), measured as chromosomal aberrations. Sta tistical analysis of chromosome aberration yield showed that: (i) different iation between obligate carriers and the control group was not possible, (i i) homozygotes were clearly distinguishable from heterozygotes as well as f rom controls by analyzing only 20 metaphase spreads per person; (iii) most of the FA patients had only one cell line present as measured by distributi on of chromosomal damage among cells analyzed: (iv) and when the DEB sensit ivity of a patient was high, the amount of cells without damage was low. (C ) 2001 Elsevier Science Inc. All rights reserved.