Abstract
By culturing leucocytes for 5 days in media with Heparin-S35 and PHG and then assaying for cellular incorporation of S35, we were able to distinguish homozygous CF from: heterozygous CF and Hurler's; and homozygous normal and Hurler's. We also noted that cells after incorporating higher levels of Heparin-S35 disrupted when fixed in Carnoy's mixture; so that after staining with Toluidine Blue O, the slide was covered with heavy amorphous metochromatic debris.
The mean S.A. for homozygous CF was significantly (p < 0.01) greater than that for all other subjects. The mean S.A. for heterozygous CF, heterozygous and homozygous Hurler's were all the same and different (p < 0.01) from the S.A. for homozygous normal. There was a significant positive (r = 0.65, p < 0.001) correlation between cell disruption and S.A. We suggest that these two complimentary assay systems could be useful in confirming the diagnosis of CF in questionable cases. Furthermore, contrary to metochromasia, cellular Heparin-S35 uptake might differentiate homozygous from heterozygous CF. Hence, if applicable to cultured amniotic fluid cells, the technique could allow detection of homozygous CF in utero.
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Steele, M., Rodnan, J. & Michaels, R. Incorporation of heparin-S35 by cultured leucocytes as a diagnostic tool in cystic fibrosis (CF). Pediatr Res 5, 393 (1971). https://doi.org/10.1203/00006450-197108000-00093
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DOI: https://doi.org/10.1203/00006450-197108000-00093