Human genetics, 2003-04, Vol.112 (4), p.426-429
2003
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Details
- Autor(en) / Beteiligte
- Titel
- Gene rearrangements in the glucocerebrosidase-metaxin region giving rise to disease-causing mutations and polymorphisms. Analysis of 25 RecNciI alleles in Gaucher disease patients
- Ist Teil von
- Human genetics, 2003-04, Vol.112 (4), p.426-429
- Ort / Verlag
- Heidelberg: Springer
- Erscheinungsjahr
- 2003
- Quelle
- SpringerLink Journals - AutoHoldings
- Beschreibungen/Notizen
- 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.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0340-6717eISSN: 1432-1203DOI: 10.1007/s00439-002-0894-0Titel-ID: cdi_proquest_journals_215530135
- Format
- –
- Schlagworte
- Allelomorphism, Biological and medical sciences, Classical genetics, quantitative genetics, hybrids, Enzymes, Errors of metabolism, Fundamental and applied biological sciences. Psychology, Genetic aspects, Genetics of eukaryotes. Biological and molecular evolution, Human, Hydrolases, Lipids (lysosomal enzyme disorders, storage diseases), Medical sciences, Metabolic diseases