Reliability of the Booth-Nadler Technique for the Detection of Hunter Heterozygotes

1 September 1975

journal article
research article
Published by American Academy of Pediatrics (AAP) in Pediatrics

Vol. 56 (3) , 429-433
https://doi.org/10.1542/peds.56.3.429

Abstract

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.

Keywords

FREEZING

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