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. 1978 Nov;30(6):575–582.

Iduronate sulfatase analysis of hair roots for identification of Hunter syndrome heterozygotes.

T Yutaka, A L Fluharty, R L Stevens, H Kihara
PMCID: PMC1685868  PMID: 106723

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. BITTER T., MUIR H. M. A modified uronic acid carbazole reaction. Anal Biochem. 1962 Oct;4:330–334. doi: 10.1016/0003-2697(62)90095-7. [DOI] [PubMed] [Google Scholar]
  2. Bach G., Eisenberg F., Jr, Cantz M., Neufeld E. F. The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase. Proc Natl Acad Sci U S A. 1973 Jul;70(7):2134–2138. doi: 10.1073/pnas.70.7.2134. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Capobianchi M. R., Romeo G. Mosaicism for sulfoiduronate sulfatase deficiency in carriers of Hunter's syndrome. Experientia. 1976 Apr 15;32(4):459–460. doi: 10.1007/BF01920795. [DOI] [PubMed] [Google Scholar]
  4. Danes B. S., Bearn A. G. Hurler's syndrome: a genetic study of clones in cell culture with particular reference to the Lyon hypothesis. J Exp Med. 1967 Sep 1;126(3):509–522. doi: 10.1084/jem.126.3.509. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Gartler S. M., Gandini E., Angioni G., Argiolas N. Glucose-6 phosphate dehydrogenase mosaicism: utilization as a tracer in the study of the development of hair root cells. Ann Hum Genet. 1969 Oct;33(2):171–176. doi: 10.1111/j.1469-1809.1969.tb01642.x. [DOI] [PubMed] [Google Scholar]
  6. Gartler S. M., Scott R. C., Goldstein J. L., Campbell B. Lesch-Nyhan syndrome: rapid detection of heterozygotes by use of hair follicles. Science. 1971 May 7;172(3983):572–574. doi: 10.1126/science.172.3983.572. [DOI] [PubMed] [Google Scholar]
  7. Kampine J. P., Brady R. O., Kanfer J. N., Feld M., Shapiro D. Diagnosis of gaucher's disease and niemann-pick disease with small samples of venous blood. Science. 1967 Jan 6;155(3758):86–88. doi: 10.1126/science.155.3758.86. [DOI] [PubMed] [Google Scholar]
  8. LOWRY O. H., ROSEBROUGH N. J., FARR A. L., RANDALL R. J. Protein measurement with the Folin phenol reagent. J Biol Chem. 1951 Nov;193(1):265–275. [PubMed] [Google Scholar]
  9. Liebaers I., Di Natale P., Neufeld E. F. Iduronate sulfatase in amniotic fluid: an aid in the prenatal diagnosis of the hunter syndrome. J Pediatr. 1977 Mar;90(3):423–425. doi: 10.1016/s0022-3476(77)80707-5. [DOI] [PubMed] [Google Scholar]
  10. Liebaers I., Neufeld E. Iduronate sulfatase activity in serum, lymphocytes, and fibroblasts--simplified diagnosis of the Hunter syndrome. Pediatr Res. 1976 Aug;10(8):733–736. doi: 10.1203/00006450-197608000-00007. [DOI] [PubMed] [Google Scholar]
  11. Lim T. W., Leder I. G., Bach G., Neufeld E. F. An assay for iduronate sulfatase (Hunter corrective factor). Carbohydr Res. 1974 Oct;37(1):103–109. doi: 10.1016/s0008-6215(00)87067-6. [DOI] [PubMed] [Google Scholar]
  12. Migeon B. R., Sprenkle J. A., Liebaers I., Scott J. F., Neufeld E. F. X-linked Hunter syndrome: the heterozygous phenotype in cell culture. Am J Hum Genet. 1977 Sep;29(5):448–454. [PMC free article] [PubMed] [Google Scholar]
  13. Neufeld E. F., Liebaers I., Lim T. W. Iduronate sulfatase determination for the diagnosis of the Hunter syndrome and the detection of the carrier state. Adv Exp Med Biol. 1976;68:253–260. doi: 10.1007/978-1-4684-7735-1_17. [DOI] [PubMed] [Google Scholar]
  14. Silvers D. N., Cox R. P., Balis M. E., Dancis J. Detection of heterozygote in Lesch-Nyhan disease by hair-root analysis. N Engl J Med. 1972 Feb 24;286(8):390–395. doi: 10.1056/NEJM197202242860802. [DOI] [PubMed] [Google Scholar]
  15. Sjöberg I., Fransson L. A., Matalon R., Dorfman A. Hunter's syndrome: a deficiency of L-idurono-sulfate sulfatase. Biochem Biophys Res Commun. 1973 Oct 1;54(3):1125–1132. doi: 10.1016/0006-291x(73)90809-7. [DOI] [PubMed] [Google Scholar]
  16. Spence M. W., Goldbloom A. L., Burgess J. K., D'entremont D., Ripley B. A., Weldon K. L. Heterozygote detection in angiokeratoma corporis diffusum (Anderson-Fabry disease). Studies on plasma, leucocytes, and hair follicles. J Med Genet. 1977 Apr;14(2):91–99. doi: 10.1136/jmg.14.2.91. [DOI] [PMC free article] [PubMed] [Google Scholar]

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