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

Cancer Genet Cytogenet. 2001 Apr 1;126(1):52-5. doi: 10.1016/s0165-4608(00)00388-5.

Abstract

Fanconi anemia (FA) is a rare autosomal recessive genetic disorder showing progressive bone marrow failure, and various phenotypic abnormalities. The lymphocytes show an increased sensitivity to the clastogenic agents diepoxybutane (DEB) or mytomycin C (MMC), measured as chromosomal aberrations. Statistical analysis of chromosome aberration yield showed that: (i) differentiation between obligate carriers and the control group was not possible; (ii) homozygotes were clearly distinguishable from heterozygotes as well as from controls by analyzing only 20 metaphase spreads per person; (iii) most of the FA patients had only one cell line present as measured by distribution of chromosomal damage among cells analyzed; (iv) and when the DEB sensitivity of a patient was high, the amount of cells without damage was low.

MeSH terms

  • Case-Control Studies
  • Cells, Cultured
  • Epoxy Compounds / pharmacology
  • Evaluation Studies as Topic
  • Fanconi Anemia / genetics*
  • Genetic Carrier Screening
  • Homozygote
  • Humans
  • Lymphocytes / drug effects
  • Mitomycin / pharmacology
  • South Africa

Substances

  • Epoxy Compounds
  • Mitomycin
  • diepoxybutane