Advertisement
Research Article Free access | 10.1172/JCI114415
Department of Molecular and Experimental Medicine, Scripps Clinic and Research Foundation, La Jolla, California 92037.
Find articles by Zimran, A. in: JCI | PubMed | Google Scholar
Department of Molecular and Experimental Medicine, Scripps Clinic and Research Foundation, La Jolla, California 92037.
Find articles by Sorge, J. in: JCI | PubMed | Google Scholar
Department of Molecular and Experimental Medicine, Scripps Clinic and Research Foundation, La Jolla, California 92037.
Find articles by Gross, E. in: JCI | PubMed | Google Scholar
Department of Molecular and Experimental Medicine, Scripps Clinic and Research Foundation, La Jolla, California 92037.
Find articles by Kubitz, M. in: JCI | PubMed | Google Scholar
Department of Molecular and Experimental Medicine, Scripps Clinic and Research Foundation, La Jolla, California 92037.
Find articles by West, C. in: JCI | PubMed | Google Scholar
Department of Molecular and Experimental Medicine, Scripps Clinic and Research Foundation, La Jolla, California 92037.
Find articles by Beutler, E. in: JCI | PubMed | Google Scholar
Published January 1, 1990 - More info
The molecular diagnosis of Gaucher disease has been difficult due to the existence of several different point mutations in the glucocerebrosidase gene and due to the presence of a tightly linked, highly homologous pseudogene. We now report the occurrence of a "Lepore-like" glucocerebrosidase fusion gene in which the 5' end is the functional gene and the 3' end is the pseudogene. This further complicates the molecular diagnosis of Gaucher disease but sheds light on the molecular anatomy of the glucocerebrosidase gene complex and on the pathogenesis of this important storage disease.
Images.
Click on an image below to see the page. View PDF of the complete article