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| Titel: |
Screening of the FceRI-b-Gene in a Swiss Population of Asthmatic Children: No Association with E237G and Identification of New Sequence Variations |
| Auteur: |
M. Rohrbach R. Kraemer S. Liechti-Gallati |
| Verschenen in: |
Disease markers |
| Paginering: | Jaargang 14 (2001) nr. 3 pagina's 177-186 |
| Jaar: |
2001-04-01 |
| Inhoud: |
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. |
| Uitgever: |
IOS Press |
| Bronbestand: |
Elektronische Wetenschappelijke Tijdschriften |
Details van artikel 6 van 9 gevonden artikelen
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