Reliability of the Tønnesen technique for the identification of Hunter carriers.
The procedure for the detection of Hunter carriers suggested by Tønnesen et al. (1982) was checked in different mixtures of normal and Hunter cells as well as by examination of five obligate and five potential Hunter carriers. In the presence of fructose 1-phosphate there was a strict correlation between the proportion of mutant cells in the fibroblast culture and sulphate accumulation, both in artificial cell mixtures and in native cell cultures of Hunter carriers. In all obligate heterozygotes studied, sulphate incorporation was increased by a factor of two. The new technique seems to be suitable for carrier diagnosis. Its limitations are discussed.
D001706:Biopsy; D002478:Cells, Cultured; D005347:Fibroblasts / Q000378:metabolism; D005636:Fructosephosphates; D006580:Genetic Carrier Screening / Q000379:methods*; D006801:Humans; D066298:In Vitro Techniques; D008297:Male; D016532:Mucopolysaccharidosis II / Q000235:genetics*; D009154:Mutation; D012867:Skin / Q000473:pathology; D013431:Sulfates / Q000378:metabolism; D013462:Sulfur Radioisotopes
D005636:Fructosephosphates; D013431:Sulfates; D013462:Sulfur Radioisotopes; C032284:fructose-1-phosphate