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Disease Markers
Volume 14, Issue 3, Pages 177-186
http://dx.doi.org/10.1155/1998/940356

Screening of the FcεRI-β-Gene in a Swiss Population of Asthmatic Children: No Association with E237G and Identification of New Sequence Variations

M. Rohrbach,1 R. Kraemer,2 and S. Liechti-Gallati1

1Human Molecular Genetics, Department of Clinical Research, University of Berne, Berne, Switzerland
2Department of Paediatrics, University of Berne, Berne, Switzerland

Received 9 December 1999; Accepted 9 December 1999

Copyright © 1998 Hindawi Publishing Corporation. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Background: The gene of the beta subunit of the high affinity receptor for IgE (FcεRI-β) 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 FcεRI-β- 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 FcεRI-β locus from being a candidate gene directly involved in these diseases.