title: Fanconi anemia. a statistical evaluation of cytogenetic results obtained from South African families.
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.
authors.affiliation: Department of Human Genetics, University of the Orange Free State, 9300, Bloemfontein, South Africa. gnmgtp@med.uovs.ac.za
authors.forename: T
authors.initials: T
authors.lastname: Pearson
authors.forename: S
authors.initials: S
authors.lastname: Jansen
authors.forename: C
authors.initials: C
authors.lastname: Havenga
authors.forename: D K
authors.initials: DK
authors.lastname: Stones
authors.forename: G
authors.initials: G
authors.lastname: Joubert
mesh_terms: D016022:Case-Control Studies; D002478:Cells, Cultured; D004852:Epoxy Compounds / Q000494:pharmacology; D005069:Evaluation Studies as Topic; D005199:Fanconi Anemia / Q000235:genetics*; D006580:Genetic Carrier Screening; D006720:Homozygote; D006801:Humans; D008214:Lymphocytes / Q000187:drug effects; D016685:Mitomycin / Q000494:pharmacology; D013019:South Africa
chemical_list: D004852:Epoxy Compounds; D016685:Mitomycin; C007366:diepoxybutane