Molecular analysis in patients with mucopolysaccharidosis type II suggests that DXS466 maps within the Hunter gene |
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| Authors: | Cordula Steglich Susanna Bunge Theo Hulsebos Michael Beck Niels J Brandt Eberhard Schwinger John J Hopwood Andreas Gal |
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| Institution: | (1) Institut für Humangenetik der Medizinischen Universität, Lübeck, Germany;(2) Institute of Human Genetics, Academic Medical Centre, University of Amsterdam, The Netherland;(3) Kinderklinik der Universität Mainz, Mainz, Germany;(4) Department of Pediatrics, Section of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark;(5) Lysosomal Diseases Research Unit, Department of Chemical Pathology, Adelaide Children's Hospital, Adelaide, Australia;(6) Institut für Humangenetik der Medizinischen Universität, Ratzeburger Allee 160, D-23538 Lübeck, Germany |
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| Abstract: | Hunter disease is an X-linked mucopolysaccharidosis caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS). Using the IDS cDNA and DNA probes corresponding to loci flanking the IDS locus, we performed molecular genetic studies in two patients with Hunter syndrome. An interstitial deletion spanning the middle part of the IDS gene was found in the first patient. The second patient carries a gross gene rearrangement that can be detected after HindIII or EcoRI digestion of genomic DNA, and is similar to that found recently in seven unrelated Hunter patients. Our data suggest that the structural aberration observed is a partial intragenic inversion. As the same altered hybridization pattern is also revealed by the recently described anonymous DNA probe II 10, which recognizes a frequent TaqI restriction fragment length polymorphism at the DXS466 locus, we conclude that DXS466 maps within the IDS gene, probably in an intron. |
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