AI Article Synopsis
- The glucocerebrosidase and metaxin genes are located in a gene-rich area with associated pseudogenes, leading to the creation of recombinant alleles.
- Research focused on two patient groups from Argentina and Spain revealed different allele types: 25 had the Rec NciI allele and 36 had the L444P mutation.
- Most Rec NciI alleles resulted from gene conversion, and the notable presence of these alleles linked to rearrangements of the metaxin gene likely stems from a founder effect.
Article 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 Rec NciI allele and 36 carrying L444P. The mutational mechanism is described and the crossover site precisely defined. Most of the Rec NciI alleles were generated by gene conversion. Rearranged alleles involving the metaxin gene were also identified. The high frequency of Rec NciI alleles associated with a polymorphic rearrangement at the metaxin level is probably due to a founder effect.
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| http://dx.doi.org/10.1007/s00439-002-0894-0 | DOI Listing |
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