{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T17:12:58Z","timestamp":1771002778606,"version":"3.50.1"},"reference-count":18,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1993,3]]},"abstract":"<jats:p>DNA based and biochemical diagnosis of MPS II was performed on 13 unrelated families using Southern blotting. The 35S-sulphate accumulation in cultured fibroblasts was investigated and the iduronate-2-sulphatase (IDS) activity in the serum determined. Sixteen patients and 36 females at risk were screened for structural aberrations and by RFLP analysis using the intragenic probe pc2S15 and probes VK23B, VK21A, and II-10 for the flanking loci DXS297, DXS296, and DXS466. Structural alterations were found in the DNA of two patients. One of them showed a major deletion including the whole coding sequence of the IDS gene. An aberrant Southern fragment occurred in the HindIII\/pc2S15 blot of the other patient suggesting a new HindIII restriction site by point mutation in an IDS gene intron. Twenty-nine females were confirmed as carriers, and for five women the heterozygous state could be excluded. Prenatal diagnosis can be offered to 27 women if requested.<\/jats:p>","DOI":"10.1136\/jmg.30.3.210","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"210-213","source":"Crossref","is-referenced-by-count":10,"title":["Carrier detection of Hunter syndrome (MPS II) by biochemical and DNA techniques in families at risk."],"prefix":"10.1136","volume":"30","author":[{"given":"W","family":"Schr\u00f6der","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Petruschka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Wehnert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Zschiesche","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Seidlitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J J","family":"Hopwood","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F H","family":"Herrmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1993,3,1]]},"reference":[{"key":"ref_1","first-page":"1565","article-title":"The mucopolysaccharidoses","volume-title":"The metabolic basis of inherited disease","author":"Neufeld, E.F.; Muenzer, J.","year":"1989","unstructured":"Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet MC, Sly WS, Valle D, eds. The metabolic basis of inherited disease. 6th ed. New York: McGraw-Hill: 1989:1565-87.","edition":"6th ed"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1136\/jmg.28.6.398","article-title":"Segregation and sporadic cases in families with Hunter's syndrome","volume":"28","author":"Machill, G.; Barbujani, G.; Danieli, G.A.; Herrmann, F.H.","year":"1991","unstructured":"Machill G, Barbujani G, Danieli GA, Herrmann FH. Segregation and sporadic cases in families with Hunter's syndrome. Med Genet 1991;28:398-401.","journal-title":"Med Genet"},{"key":"ref_3","first-page":"37","article-title":"Physical localization of the X:autosomal translocation breakpoint from a girl expressing Hunter syndrome using Xq27-Xq28 markers. 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