Reliability of the Booth-Nadler technique for the detection of Hunter heterozygotes

Reliability of the Booth-Nadler technique for the detection of Hunter heterozygotes

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 deg...

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Veröffentlicht in:Pediatrics (Evanston) 1975-09, Vol.56 (3), p.429-433
Hauptverfasser: Donnelly, P V, Di Ferrante, N
Format: Artikel
Sprache:eng
Schlagworte:
Adult
Cell Line
Child
Female
Fibroblasts - analysis
Fibroblasts - metabolism
Freezing
Glycosaminoglycans - metabolism
Heterozygote
Humans
Male
Mucopolysaccharidosis II - genetics
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Zusammenfassung: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 of 35SO4, is measured.
ISSN:0031-4005
1098-4275
DOI:10.1542/peds.56.3.429