Am J Hum Genet. 1979 Jan;31(1):42-9.

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.

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PMCID:: PMC1685663

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Iduronate sulfatase analysis of hair roots for identification of Hunter syndrome heterozygotes. [Am J Hum Genet. 1978]
Iduronate sulfatase analysis of hair roots for identification of Hunter syndrome heterozygotes.
Yutaka T, Fluharty AL, Stevens RL, Kihara H. Am J Hum Genet. 1978 Nov; 30(6):575-82.
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Cited by 2 PubMed Central articles

Reassessment of biochemically determined Hunter syndrome carrier status by DNA testing. [J Med Genet. 1998]
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Timms KM, Edwards FJ, Belmont JW, Yates JR, Gibbs RA. J Med Genet. 1998 Aug; 35(8):646-9.
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