Eight unrelated patients with Hunter syndrome were investigated for expression of iduronate-2-sulfatase (IDS) mRNA by reverse transcription (RT) linked to polymerase chain reaction (PCR), or RT-PCR. The entire coding region was studied by amplification of two overlapping segments of 0.7 and 1.1 kb. Seven children with Hunter syndrome had PCR products indistinguishable in size from normal. One patient, with clinically severe disease, did not produce either IDS product although mRNA for a control gene was readily amplified. This method rapidly identifies patients having absent or qualitatively abnormal IDS mRNA and may be useful in investigating genotype-phenotype relationships.
This is a preview of subscription content, access via your institution.
Buy single article
Instant access to the full article PDF.
Price excludes VAT (USA)
Tax calculation will be finalised during checkout.
Chomczynski P, Sacchi N (1987) Single-step method of RNA isolation: acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156–159
Conzelmann E, Sandhoff K (1983–1984) Partial enzyme deficiencies: residual activities and the development of neurological disorders. Dev Neurosci 6:58–71
Hopwood JJ, Morris CP (1990) The mucopolysaccharidoses: diagnosis, molecular genetics and treatment. Mol Biol Med 7:381–404
Hopwood JJ, Morris CP, Scott HS, Wilson PJ (1991) Molecular genetics of Hurler and Hunter syndromes. Am J Hum Genet 49 [Suppl]:58
Neufeld EF, Muenzer J (1989) The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease, 6th edn. McGraw-Hill, New York, pp 1565–1588
Palmieri G, Capra V, Romano G, D'Urso M, Johnson S, Schlessinger D, Morris P, Hopwood J, DiNatale P, Gotti R, Ballabio A (1992) The iduronate sulfatase gene: isolation of a 1. 2-Mb YAC contig spanning the entire gene and identification of heterogenous deletions in patients with Hunter syndrome. Genomics 12:52–57
Sanger F, Niklen S, Coulson AR (1977) DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA 74:5463–5467
Tomatsu S, Fukuda S, Sukegawa K, Ikedo Y, Yamada S, Yamada Y, Sasaki T, Okamoto H, Kuwahara T, Yamaguchi S, Kiman T, Shintaka H, Isshiki G, Orii T (1991) Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity. Am J Hum Genet 48:89–96
Warkentin PI, Dixon MS, Schafer I, Strandjord SE, Coccia PF (1986) Bone marrow transplantation in Hunter syndrome: a preliminary report. Birth Defects 22:31–39
Wasteson A, Neufeld EF (1982) Iduronate sulfatase from human plasma. Methods Enzymol 83:573–578
Wilson PJ, Morris CP, Anson DS, Occhiodoro AT, Bielicki J, Clements PR, Hopwood JJ (1990) Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA. Proc Natl Acad Sci USA 87:8531–8535
Wilson PJ, Suthers GK, Callen DF, Baker E, Nelson PV, Cooper A, Wraith JE, Sutherland GR, Morris CP, Hopwood JJ (1991) Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome. Hum Genet 86:505–508
Young ID, Harper PS (1982) Mild form of Hunter's syndrome: clinical delineation based on 31 cases. Arch Dis Child 57:828–836
Young ID, Harper PS, Archer IM, Newcombe RG (1982a) A clincal and genetic study of Hunter's syndrome. I. Heterogeneity. J Med Genet 19:401–407
Young ID, Harper PS, Newcombe RG, Archer IM (1982b) A clinical and genetic study of Hunter's syndrome. II. Differences between the mild and severe forms. J Med Genet 19:408–411
About this article
Cite this article
Crotty, P.L., Whitley, C.B. Assessment of iduronate-2-sulfatase mRNA expression in Hunter syndrome (mucopolysaccharidosis type II). Hum Genet 90, 285–288 (1992). https://doi.org/10.1007/BF00220080