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dc.contributor.authorFenech, Anthony G.-
dc.contributor.authorEbejer, Martin J.-
dc.contributor.authorFelice, Alex-
dc.contributor.authorEllul-Micallef, Roger-
dc.contributor.authorHall, Ian P.-
dc.date.accessioned2018-03-16T11:10:51Z-
dc.date.available2018-03-16T11:10:51Z-
dc.date.issued2001-
dc.identifier.citationFenech, A. G., Ebejer, M. J., Felice, A. E., Ellul‐Micallef, R., & Hall, I. P. (2001). Mutation screening of the muscarinic M2 and M3 receptor genes in normal and asthmatic subjects. British Journal of Pharmacology, 133(1), 43-48.en_GB
dc.identifier.urihttps://www.um.edu.mt/library/oar//handle/123456789/28019-
dc.description.abstractMuscarinic receptors are important in the development of airway hyperresponsiveness, and dysfunction of these receptors has been suggested to be present in asthma. 2. The human muscarinic M 2 and M 3 receptor genes were screened for polymorphic variation using single-stranded conformation polymorphism (SSCP) analysis, complemented by direct fluorescent sequencing. Forty-six random DNA samples and 46 respiratory physician diagnosed asthmatic samples were used as a template for analysis. 3. Within the muscarinic M 2 receptor gene, we identified two degenerate single base substitutions (1197T→C, Thr→Thr and 976A→C, Arg→Arg) in one random and one asthmatic sample respectively. Analysis of the 3′ UTR region revealed an additional "A" at bp 1793 (c.f. ATG). This was present in all of 49 samples analysed by sequencing or BsmI digest, suggesting that the published sequence (GenBank Accession No. M16404) is incorrect. A common 3′ UTR polymorphism (T→A) was found at bp 1696 (c.f. ATG) (allelic frequency = 65%, n = 60), but this does not alter transcription factor recognition sites. 4. We were unable to identify any polymorphic variation within the muscarinic M 3 coding region or the flanking regions investigated, using the methods described. 5. The coding regions for the human muscarinic M 2 and M 3 receptor genes are both highly conserved. These data suggest that polymorphic variation within these coding sequences is unlikely to account for inter-individual variability in response to methacholine or anticholinergic therapy. The potential functional significance of the muscarinic M 2 receptor 3′ UTR polymorphism (bp 1696) remains to be determined.en_GB
dc.language.isoenen_GB
dc.publisherNature Publishing Groupen_GB
dc.rightsinfo:eu-repo/semantics/restrictedAccessen_GB
dc.subjectMuscarinic receptorsen_GB
dc.subjectAsthmaen_GB
dc.subjectGenetic polymorphisms -- Maltaen_GB
dc.titleMutation screening of the muscarinic M2 and M3 receptor genes in normal and asthmatic subjectsen_GB
dc.typearticleen_GB
dc.rights.holderThe copyright of this work belongs to the author(s)/publisher. The rights of this work are as defined by the appropriate Copyright Legislation or as modified by any successive legislation. Users may access this work and can make use of the information contained in accordance with the Copyright Legislation provided that the author must be properly acknowledged. Further distribution or reproduction in any format is prohibited without the prior permission of the copyright holder.en_GB
dc.description.reviewedpeer-revieweden_GB
dc.identifier.doi10.1038/sj.bjp.0704039-
dc.publication.titleBritish Journal of Pharmacologyen_GB
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