title: Screening of the Fc epsilon RI-beta-gene in a Swiss population of asthmatic children: no association with E237G and identification of new sequence variations.
abstract: BACKGROUND
  The gene of the beta subunit of the high affinity receptor for IgE (Fc epsilon RI-beta) encoded on chromosome 11q13 has recently been identified as a candidate gene for asthma and atopy. Two coding variations, E237G and I181L have been described as being associated with asthma and atopy. Our aim was to investigate a Swiss population of atopic and asthmatic children for variations in this gene.
  
  
  METHODS
  We screened all 7 exons of the Fc epsilon RI-beta-gene in 224 atopic/asthmatic, 68 relatives and 159 control subjects using exon amplification by PCR and single strand conformation polymorphism (SSCP) analysis followed by fluorescence based DNA sequencing.
  
  
  RESULTS
  The sequence variant E237G was found in 3.7% in atopics and in 2.6% in the control population. None of the samples carried the I181L mutation. In addition, we characterised nine novel mutations (1 nonsense mutation, 2 missense mutations, mutation, 2 silent mutations, 4 intronic mutations).
  
  
  CONCLUSIONS
  Our results suggest that the E237G does not have a primary effect on the development of atopy and asthma, and thus excludes the Fc epsilon RI-beta locus from being a candidate gene directly involved in these diseases.
authors.affiliation: Department of Clinical Research, University of Berne, Switzerland. marianne.rohrbach@dkf2.unibe.ch
authors.forename: M
authors.initials: M
authors.lastname: Rohrbach
authors.forename: R
authors.initials: R
authors.lastname: Kraemer
authors.forename: S
authors.initials: S
authors.lastname: Liechti-Gallati
mesh_terms: D000293:Adolescent; D001249:Asthma / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005091:Exons; D005260:Female; D005820:Genetic Testing; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D006969:Hypersensitivity, Immediate / Q000235:genetics*; D007438:Introns; D008297:Male; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D017455:Receptors, IgE / Q000235:genetics*; D017422:Sequence Analysis, DNA; D013557:Switzerland
chemical_list: D017455:Receptors, IgE