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Article type: Research Article
Authors: Rohrbach, M. | Kraemer, R. | Liechti-Gallati, S.
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: marianne.rohrbach@dkf2.unibe.ch
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.
Keywords: 11q13, atopy, BHR
Journal: Disease Markers, vol. 14, no. 3, pp. 177-186, 1998
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