Abstract
Heterozygotes for the autosomal recessive disease cystlnosis are currently detected by measuring the cystine content of mixed leukocyte preparations. This method offers about 90% accuracy. The following study was designed to determine if measuring the cystine content of purified preparations of polymorphonuclear leukocytes (PMNs) would improve the accuracy of heterozygote detection. Subjects included 29 obligate heterozygotes for nephropathic cystinosis and 18 individuals presumed to be normal. Mixed leukozytes were prepared from 10 ml of blood by dextran sedimentation; PMNs were prepared by centrifugation of 4.5 ml of blood on a discontinuous gradient of Ficoll-Hypaque. The cystine content of both leukocyte preparations was determined by a specific binding assay. All values are expressed as nmol 1/2 cys/mg protein and are shown in the table below. Using mixed leukocyte preparations, 3 heterozygotes overlapped the normal range reconfirming a detection accuracy of 90%. Using PMNs no heterozygote values fell within the normal range. Measuring the cystine content of PMNs appears to provide a simple screening assay which improves the accuracy of heterozygote detection for cystinosis.
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Smolin, L., Clark, K. & Schneider, J. HETEROZYGOTE DETECTION IN CYSTINDSIS USING POLYMDRPIIONUCLEAR LEUKOCYTES. Pediatr Res 21 (Suppl 4), 294 (1987). https://doi.org/10.1203/00006450-198704010-00761
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DOI: https://doi.org/10.1203/00006450-198704010-00761