Literature DB >> 12589426

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.

Anna Díaz-Font1, Bru Cormand, Mariana Blanco, Néstor Chamoles, Amparo Chabás, Daniel Grinberg, Lluïsa Vilageliu.   

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.

Entities:  

Mesh：

Substances：

Year:  2003        PMID： 12589426     DOI： 10.1007/s00439-002-0894-0

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  8 in total

1.  The HUGO Gene Nomenclature Committee (HGNC).

Authors:  S Povey; R Lovering; E Bruford; M Wright; M Lush; H Wain
Journal:  Hum Genet       Date:  2001-10-24       Impact factor: 4.132

2.  Nomenclature for the description of human sequence variations.

Authors:  J T den Dunnen; S E Antonarakis
Journal:  Hum Genet       Date:  2001-07       Impact factor: 4.132

3.  Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome.

Authors:  B Cormand; D Grinberg; L Gort; A Chabás; L Vilageliu
Journal:  Hum Mutat       Date:  1998       Impact factor: 4.878

4.  Two novel polymorphic sequences in the glucocerebrosidase gene region enhance mutational screening and founder effect studies of patients with Gaucher disease.

Authors:  E K Lau; N Tayebi; L J Ingraham; S L Winfield; V Koprivica; D L Stone; A Zimran; E I Ginns; E Sidransky
Journal:  Hum Genet       Date:  1999-04       Impact factor: 4.132

5.  New insights into the origin of the Gaucher disease-causing mutation N370S: extended haplotype analysis using the 5GC3.2, 5470 G/A, and ITG6.2 polymorphisms.

Authors:  A Rodríguez-Marí; A Díaz-Font; A Chabás; G M Pastores; D Grinberg; L Vilageliu
Journal:  Blood Cells Mol Dis       Date:  2001 Sep-Oct       Impact factor: 3.039

6.  Gene rearranagement on 1q21 introducing a duplication of the glucocerebrosidase pseudogene and a metaxin fusion gene.

Authors:  N Tayebi; J Park; V Madike; E Sidransky
Journal:  Hum Genet       Date:  2000-10       Impact factor: 4.132

7.  A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder.

Authors:  A Zimran; J Sorge; E Gross; M Kubitz; C West; E Beutler
Journal:  J Clin Invest       Date:  1990-01       Impact factor: 14.808

Review 8.  Mutation analysis of Gaucher disease patients from Argentina: high prevalence of the RecNciI mutation.

Authors:  B Cormand; T L Harboe; L Gort; C Campoy; M Blanco; N Chamoles; A Chabás; L Vilageliu; D Grinberg
Journal:  Am J Med Genet       Date:  1998-12-04
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.