SPONTANEOUS AND CHLORAMPHENICOL-INDUCED CHROMOSOME MUTATIONS AND BIOCHEMICAL DATA IN 2 CASES WITH GLUTATHIONE REDUCTASE DEFICIENCY (NAD(P)H - GLUTATHIONE OXIDOREDUCTASE, EC-1642)

In one proband with pancytopenia and in his mother with normal blood picture the pattern of the erythrocyte enzymes revealed a glutathione reductase deficiency with a missing GR-II-band in the electropherogram. The incidence of spontaneous aberrations in the chromosomes of both individuals (52-58% and 7.2-8% metaphases with chromosomal damage) was significantly higher than in normal controls (0-3%). After 0.5 mg chloramphenicol per ml culture medium was applied 24 hours before fixation the number of damaged metaphases further increased to about 81% and 19-21%, respectively. Possible reasons for this phenomenon are discussed. © 1969 Springer-Verlag.