[Effect of chlormethin chlorhydrate on the chromosomes in Fanconi's anemia: application to diagnosis and detection of heterozygotes].
Nitrogen mustard added at final concentration of 0.008 5 microgram/ml after 1 day to culture of PHA-stimulated lymphocytes increased drastically the level of chromosome breakage in Fanconi's anemia (FA) patients. A clear distinction between FA patients and FA parents or controls was therefore possible. Nitrogen mustard at the same concentration added to the culture since their initiation increased the SCE levels in FA heterozygotes significantly compared with controls, allowing the diagnosis of the heterozygous state.
D000741:Anemia, Aplastic / Q000235:genetics*; D002478:Cells, Cultured; D002877:Chromosomes, Human / Q000187:drug effects*; D005199:Fanconi Anemia / Q000235:genetics*; D006580:Genetic Carrier Screening / Q000379:methods*; D006801:Humans; D008214:Lymphocytes / Q000187:drug effects / Q000648:ultrastructure; D008466:Mechlorethamine / Q000494:pharmacology*; D012854:Sister Chromatid Exchange / Q000187:drug effects
D008466:Mechlorethamine
Effet du chlorhydrate de chlorméthine sur les chromosomes dans l'anémie de Fanconi : application au diagnostic et à la détection des hétérozygotes.