PEDIATRICS Vol. 56 No. 3 September 1975, pp. 429-433
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Reliability of the Booth-Nadler Technique for the Detection of Hunter Heterozygotes

Patricia V. Donnelly M.D.1 and Nicola Di Ferrante M.D.1

1 Laboratories of Connective Tissue Research of the Department of Biochemistry, and the Departments of Medicine and Surgery, Baylor College of Medicine, Houston, Texas

Skin fibroblasts from three obligated and one potential heterozygotes for the Hunter gene displayed abnormal metabolism of glycosaminoglycans four to six weeks after rapid freezing in liquid nitrogen. The technique seems to be useful for the identification of Hunter carriers, especially when the degradation of 35SO4-labeled, intracellular glycosaminoglycans, rather than the uptake 35SO4, is measured.

Submitted on September 27, 1974
Accepted on November 11, 1974