Affiliations: Human Molecular Genetics, Department of Clinical
Research, University of Berne, Berne, Switzerland | Department of Paediatrics, University of Berne, Berne,
Switzerland
Note: [] Correspondence: M. Rohrbach, MD, Department of Clinical
Research, Human Molecular Genetics, University of Berne,
Inselspital/Kinderklinik G2/811, CH-3010 Berne, Switzerland, Tel.: +41 31 632
8724, Fax: +41 31 632 9484, E-mail: [email protected]
Abstract: BACKGROUND: The gene of the beta subunit of the high affinity
receptor for IgE (FcåRI-â) 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 FcåRI-â- 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
FcåRI-â locus from being a candidate gene directly involved in
these diseases.
