Mutational analysis of the high affinity immunoglobulin E
receptor 
subunit gene in asthma
a Department of
Biochemistry & Molecular Biology, b Department of Physiology, c University of Melbourne,
Parkville 3052, Australia Department of
Epidemiology & Preventative Medicine, d Department of Respiratory Medicine, e Alfred Hospital and Monash University,
Prahran, 3181 Victoria, Australia
Correspondence to: Dr P Dickson, Department of Medical Biochemistry, Medical Sciences Building, University of Newcastle, Callaghan, 2308 NSW, Australia.
Received 9 December 1997; Returned to authors 18 March 1998; Revised version received 16 December 1998; Accepted for publication 16 December 1998
BACKGROUND
The gene
for the 
subunit of the high affinity receptor for
immunoglobulin E (Fc
RI-) on chromosome 11q13 is linked with clinical asthma and certain mutations have been identified. A study was
undertaken to identify DNA variation in the FcRI- gene in a
population sample in which linkage between 11q13 and asthma was
explained by bronchial hyperreactivity (BHR) but not atopy.
METHODSDNA samples
from 71 subjects with asthma, atopy, or BHR were analysed. The complete
coding region, some of the introns, and some of the 5' untranscribed
region of the FcRI- gene were sequenced.
RESULTSIn the
subjects studied there were no deviations from the published sequence
in any of the seven coding exons of the FcRI- gene. In
particular, the three previously reported mutations (Ile181, Leu183,
Glu237) were not detected. Two new polymorphisms were discovered, one
at position 243 in the 5' untranscribed region and one at position 4390 in intron III. Neither of these variants showed significant association
with asthma, atopy, or BHR.
CONCLUSIONSThese
results suggest that, in the population studied, linkage of asthma and
BHR to 11q13 is not explained by mutations in the FcRI- gene.
Other mutations in the non-coding region of this gene or in adjacent
genes must explain the linkage findings in this study.
Keywords: asthma; genetics; Fc
RI- gene
© 1999 by Thorax
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