PMID: 107796Jan 1, 1979

Detection of hunter heterozygotes by enzymatic analysis of hair roots

American Journal of Human Genetics
N Nwokoro, E F Neufeld


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.

Related Concepts

Enzyme Activation
Clinical Enzyme Tests (Procedure)
Downy Hair
Heterozygote Detection
Homo sapiens
Iduronate Sulfatase

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