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Prevalent and rare mutations among Gaucher patients
1Department of Chemical Immunology, Weizmann Institute of Science, Rehovot, Israel.
Gene
|December 15, 1990
Summary
Novel mutations in the glucocerebrosidase (GCS) gene were identified in Gaucher patients. Recombinant alleles, formed by gene conversion with a pseudogene, likely contribute to the high mutation frequency in Gaucher disease.
Area of Science:
- Genetics
- Molecular Biology
- Biochemistry
Background:
- Gaucher disease is a lysosomal storage disorder caused by mutations in the glucocerebrosidase (GCS) gene.
- The GCS gene has a highly homologous pseudogene, which can complicate mutation detection and analysis.
Purpose of the Study:
- To identify novel mutations in the GCS gene in Gaucher patients.
- To investigate the role of the GCS pseudogene in the generation of GCS mutations.
Main Methods:
- Sequence analysis of GCS cDNA and genomic DNA from Gaucher patients.
- Identification and characterization of recombinant alleles.
Main Results:
- Two novel mutations were identified in a type-2 Gaucher patient.
- A G----C transversion (Asp409----His) was designated the TL mutation.
- Two recombinant alleles, recTL and recNciI, were identified, containing multiple mutations and evidence of pseudogene origin.
Conclusions:
- The presence of the GCS pseudogene close to the active gene facilitates mutation transfer through gene conversion or recombination.
- This pseudogene-mediated mechanism likely accounts for the high frequency of GCS mutations observed in Gaucher disease.