title: Detection of hunter heterozygotes by enzymatic analysis of hair roots.
abstract: We have developed a procedure for testing iduronate sulfatase, the enzyme deficient in Hunter syndrome, in single hair roots. Beta-Hexosaminidase was used as the reference enzyme. The ratio of iduronate sulfatase to beta--hexosaminidase, expressed in arbitrary units of activity, is near zero for Hunter patients and greater than 0.6 in almost all roots of normal individuals. Hair roots of Hunter heterozygotes show a characteristic continuum of activity ratios, ranging from totally deficient up to and including the normal range. The results are consistent with the origin of hair roots from a small number of progenitor cells which obey the Lyon hypothesis. The proportion of roots with low activity can be used to discriminate between normal and heterozygous individuals.
mesh_terms: D000293:Adolescent; D000328:Adult; D004796:Clinical Enzyme Tests; D004789:Enzyme Activation; D006580:Genetic Carrier Screening / Q000379:methods*; D006197:Hair / Q000201:enzymology*; D006579:Heterozygote; D006596:Hexosaminidases / Q000032:analysis; D006801:Humans; D007066:Iduronate Sulfatase / Q000032:analysis*; D008875:Middle Aged; D016532:Mucopolysaccharidosis II / Q000175:diagnosis / Q000235:genetics*; D013429:Sulfatases / Q000032:analysis*
chemical_list: D013429:Sulfatases; D007066:Iduronate Sulfatase; D006596:Hexosaminidases