A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder.
A Zimran, J Sorge, E Gross, M Kubitz… - The Journal of …, 1990 - Am Soc Clin Investig
A Zimran, J Sorge, E Gross, M Kubitz, C West, E Beutler
The Journal of clinical investigation, 1990•Am Soc Clin InvestigThe 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 …
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 …
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.
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