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 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.
Pearson
T
T
Department of Human Genetics, University of the Orange Free State, 9300, Bloemfontein, South Africa. gnmgtp@med.uovs.ac.za
Jansen
S
S
Havenga
C
C
Stones
D K
DK
Joubert
G
G
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
D004852:Epoxy Compounds; D016685:Mitomycin; C007366:diepoxybutane