EFFECT OF CHROMOSOMAL ABNORMALITIES ON G6PD ACTIVITY IN CULTURED HUMAN FIBROBLASTS

Abstract

Previously we reported a sex difference in activity of X-linked G6PD in cultured antenatal lung as a consequence of depression of G6PD activity in the male rather than lack of X-inactivation in the female. Shortly after birth male G6PD activity rises to equal that of female. G6PD activity in cultured skin is lower than that of lung and does not show developmental or sex differences. The lability of the effective output of the G6PD locus in cultured lung compared to skin is again demonstrated in the present report on: LUNG-two strains each 47, XX, 21+;one each 46, XX, t21/21;45, XX, 22-;47, XX, 18+;47, XXY;49, XXXXY;and SKIN-one strain each 47, XX, 21+;47, XY, 9+;47, XXY;49, XXXXY. Compared to chromosomally normal controls, G6PD activity was depressed˜53%(p<0.001) in all five lung strains with autosomal aneuploidy. G6PD activity was the same as 46, XX controls in Y bearing multi X lung strainsjand was unaffected in skin strains with either X or autosomal aneuploidy. LDH activity was unaffected in all chromosomally abnormal strains. The diversity of the autosomal aneuploidy suggests that its effect on G6PD activity in lung reflects upon a general rather than & specific type of interference with regulation of the effective output of the G6PD locus. That antenatal Y bearing multi X lung has the same G6PD activity as 46, XX lung suggests that depression of G6PD activity in antenatal 46, XY lung is related to the presence of a single (as opposed to multiple) X chromosome rather than to some effect of the Y chromosome.

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