title: Gene rearrangements in the glucocerebrosidase-metaxin region giving rise to disease-causing mutations and polymorphisms. Analysis of 25 Rec NciI alleles in Gaucher disease patients.
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.
authors.affiliation: Departament de Genètica, Facultat de Biologia, Universitat de Barcelona, Av. Diagonal, 645, E-08028 Barcelona, Spain.
authors.forename: Anna
authors.initials: A
authors.lastname: Díaz-Font
authors.forename: Bru
authors.initials: B
authors.lastname: Cormand
authors.forename: Mariana
authors.initials: M
authors.lastname: Blanco
authors.forename: Néstor
authors.initials: N
authors.lastname: Chamoles
authors.forename: Amparo
authors.initials: A
authors.lastname: Chabás
authors.forename: Daniel
authors.initials: D
authors.lastname: Grinberg
authors.forename: Lluïsa
authors.initials: L
authors.lastname: Vilageliu
mesh_terms: D000483:Alleles; D018703:Founder Effect; D005776:Gaucher Disease / Q000235:genetics*; D015321:Gene Rearrangement / Q000235:genetics*; D005838:Genotype; D005962:Glucosylceramidase / Q000235:genetics*; D006801:Humans; D033681:Mitochondrial Membrane Transport Proteins; D009154:Mutation / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: C093550:MTX1 protein, human; D033681:Mitochondrial Membrane Transport Proteins; D011506:Proteins; D005962:Glucosylceramidase