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Iduronate sulfatase analysis of hair roots for identification of Hunter syndrome heterozygotes.
Am J Hum Genet 1978; 30(6):575-82AJ

Abstract

Iduronate sulfatase, the enzyme deficient in Hunter syndrome, can be readily measured in individual hair roots. Samples from Hunter syndrome hemizygotes had activities at or near the limits of detection. Samples from two mothers of Hunter syndrome patients, one an obligate heterozygote, had lower average iduronate sulfatase activity than the normal mean, and a significant number of hair roots had activity in the pathognomic range. A third mother showed a normal distribution of enzyme activity, and no hair roots were in the range of those from an affected individual. These results are similar to studies on the distribution of other X-linked enzymes in individual hair root samples from heterozygotes. This suggests that hair root iduronate sulfatase assessment is useful in the detection of Hunter syndrome carrier status, but further refinement of the test system is necessary.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

106723

Citation

Yutaka, T, et al. "Iduronate Sulfatase Analysis of Hair Roots for Identification of Hunter Syndrome Heterozygotes." American Journal of Human Genetics, vol. 30, no. 6, 1978, pp. 575-82.
Yutaka T, Fluharty AL, Stevens RL, et al. Iduronate sulfatase analysis of hair roots for identification of Hunter syndrome heterozygotes. Am J Hum Genet. 1978;30(6):575-82.
Yutaka, T., Fluharty, A. L., Stevens, R. L., & Kihara, H. (1978). Iduronate sulfatase analysis of hair roots for identification of Hunter syndrome heterozygotes. American Journal of Human Genetics, 30(6), pp. 575-82.
Yutaka T, et al. Iduronate Sulfatase Analysis of Hair Roots for Identification of Hunter Syndrome Heterozygotes. Am J Hum Genet. 1978;30(6):575-82. PubMed PMID: 106723.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Iduronate sulfatase analysis of hair roots for identification of Hunter syndrome heterozygotes. AU - Yutaka,T, AU - Fluharty,A L, AU - Stevens,R L, AU - Kihara,H, PY - 1978/11/1/pubmed PY - 1978/11/1/medline PY - 1978/11/1/entrez SP - 575 EP - 82 JF - American journal of human genetics JO - Am. J. Hum. Genet. VL - 30 IS - 6 N2 - Iduronate sulfatase, the enzyme deficient in Hunter syndrome, can be readily measured in individual hair roots. Samples from Hunter syndrome hemizygotes had activities at or near the limits of detection. Samples from two mothers of Hunter syndrome patients, one an obligate heterozygote, had lower average iduronate sulfatase activity than the normal mean, and a significant number of hair roots had activity in the pathognomic range. A third mother showed a normal distribution of enzyme activity, and no hair roots were in the range of those from an affected individual. These results are similar to studies on the distribution of other X-linked enzymes in individual hair root samples from heterozygotes. This suggests that hair root iduronate sulfatase assessment is useful in the detection of Hunter syndrome carrier status, but further refinement of the test system is necessary. SN - 0002-9297 UR - https://www.unboundmedicine.com/medline/citation/106723/Iduronate_sulfatase_analysis_of_hair_roots_for_identification_of_Hunter_syndrome_heterozygotes_ L2 - https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/106723/ DB - PRIME DP - Unbound Medicine ER -