Abstract

asthma. an association between polymorphism in this gene and others could be expected. The initial observation that an abnormality of the Fcs-R1 beta gene, which is located on chromosome 11q13, is associated with the development of atopy was made using linkage analysis (421-424). Further work has shown that the gene affects offspring only if it is derived from the mother (425), a finding suggestive of paternal genomic imprinting (426).Although several groups have failed to reproduce the 11q13 observations (427). perhaps due to problems with selection of appropriate phenotypes and informative pedigrees, they have been reproduced by a Japanese group (428) and a Dutch group (429). More importantly. a mutation in the Fc&-R1 beta gene has now been described (Cookson WQCM. 1994. personal communication). and this mutation is associated with the atopic phenotype. The high-affinity receptor is known to be located on the surface of mast cells. but more recently has been found on the surface of other cells. including dendritic cells at the airway epithelium. Othergenes. The gene for the ~2-adrenergic receptor has been sequenced in asthmatics to seek possible polymorphisms associated with asthma. It has been found to contain a polymorphism (Arg16.....Gly). which might account for the need for corticosteroids in asthmatics. Mutations that could be a reasonably common cause of asthma were not detected (430).

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