Abstract
The glucocerebrosidase and metaxin genes lie in a gene-rich region that also includes two corresponding pseudogenes. This gives rise to recombinant alleles. We analysed two groups of patients from Argentina and Spain: 25 bearing the RecNciI allele and 36 carrying L444P. The mutational mechanism is described and the crossover site precisely defined. Most of the RecNciI alleles were generated by gene conversion. Rearranged alleles involving the metaxin gene were also identified. The high frequency of RecNciI alleles associated with a polymorphic rearrangement at the metaxin level is probably due to a founder effect.
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Acknowledgements
The authors are grateful to Dr. A. Carracedo and D. Gallardo for providing control samples, to L. Gort for technical assistance and to R. Rycroft for revising the English. They also thank Serveis Científico-Tècnics, Universitat de Barcelona. ADF is a recipient of a fellowship from the Spanish government. This research was supported by CICYT (SAF 2000-0200), Fundació Marató de TV3 (Proj. Nos. 98-1220/1221), and Genzyme. All experiments comply with current Spanish legislation.
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Díaz-Font, A., Cormand, B., Blanco, M. et al. Gene rearrangements in the glucocerebrosidase-metaxin region giving rise to disease-causing mutations and polymorphisms. Analysis of 25 RecNciI alleles in Gaucher disease patients. Hum Genet 112, 426–429 (2003). https://doi.org/10.1007/s00439-002-0894-0
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DOI: https://doi.org/10.1007/s00439-002-0894-0