Mosaicism for sulfoiduronate sulfatase deficiency in carriers of Hunter's syndrome.
Using an assay for sulfoiduronate sulfatase based on the degradation of 35S mucopolysaccharides in a cell-free system, two clonal populations have been demonstrated in fibroblasts of heterozygotes for Hunter's syndrome. The locus responsible for sulfoiduronate sulfatase deficiency in this X-linked mucopolysaccharidosis is therefore subjected to dosage compensation in females.
D002999:Clone Cells; D005260:Female; D005347:Fibroblasts / Q000201:enzymology*; D006801:Humans; D066298:In Vitro Techniques; D008297:Male; D009030:Mosaicism; D016532:Mucopolysaccharidosis II / Q000201:enzymology*; D012723:Sex