Abstract

The number of cells, DNA, RNA, protein and 64Cu uptake per unit fibroblast culture were determined from skin of x-chromosome linked copper malabsorption (X-cLCM) patients and amniocentesis cells of a pregnancy at risk. Appropriate controls were similarly evaluated. The 64Cu uptake per unit RNA was the most discriminating determinant between the control and X-cLCM populations (0.005<p<0.01). The 64Cu uptake per unit protein was the least discriminating determinant (0.02<p<0.05). Intermediate values (0.01<p<0.02) were found for the 64Cu uptakes per unit DNA and per 106 cells. The data do not reveal any significant differences between cultured X-cLCM and control fibroblasts' rate of replication, transcription or translation. These findings suggest that Horn's description of an increased 64Cu uptake per unit protein in X-cLCM cultured cells (Lancet 1:1156-1158, 1976) is not due to an alteration of protein synthesis. This technique may prove useful for antenatal discrimination of X-cLCM fetuses.

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