Article

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.

Department of Clinical Research, University of Berne, Switzerland.
Disease markers (impact factor: 1.64). 12/1998; 14(3):177-86. pp.177-86
Source: PubMed

ABSTRACT 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.
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.
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).
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.

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Keywords

1 nonsense mutation
 
159 control subjects
 
224 atopic/asthmatic
 
7 exons
 
asthmatic children
 
atopics
 
beta subunit
 
candidate gene
 
coding variations
 
control population
 
diseases
 
DNA sequencing
 
Fc epsilon RI-beta
 
Fc epsilon RI-beta locus
 
Fc epsilon RI-beta-gene
 
IgE
 
sequence variant E237G
 
single strand conformation polymorphism
 
Swiss population
 
variations