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dc.contributor.authorMargery-Muir, Audrey
dc.contributor.authorWetherall, John
dc.contributor.authorCastley, A.
dc.contributor.authorHew, M.
dc.contributor.authorWhidborne, R.
dc.contributor.authorMallon, D.
dc.contributor.authorMartinez, P.
dc.contributor.authorWitt, C.
dc.date.accessioned2017-01-30T14:53:48Z
dc.date.available2017-01-30T14:53:48Z
dc.date.created2015-01-27T20:00:42Z
dc.date.issued2014
dc.identifier.citationMargery-Muir, A. and Wetherall, J. and Castley, A. and Hew, M. and Whidborne, R. and Mallon, D. and Martinez, P. et al. 2014. Establishment of Gene Copy Number–Specific Normal Ranges for Serum C4 and Its Utility for Interpretation in Patients With Chronically Low Serum C4 Concentrations. Arthritis and Rheumatology. 66 (9): pp. 2512-2520.
dc.identifier.urihttp://hdl.handle.net/20.500.11937/41633
dc.identifier.doi10.1002/art.38680
dc.description.abstract

Objective - To establish gene copy number (GCN)–specific normal ranges for serum C4 genes and to determine their utility with respect to the interpretation of chronically low serum C4 concentrations in patients with clinically quiescent systemic lupus erythematosus (SLE). Methods - C4 serum concentrations were estimated by automated turbidimetry, and C4 GCNs were determined using the TaqMan real-time polymerase chain reaction (PCR) analysis in 184 unselected individuals and in 10 patients with type 1 diabetes mellitus (DM) who were selected for the presence of only 2 copies of the C4 gene. C4 GCNs were also determined in 11 patients with clinically quiescent SLE who had chronically low serum C4 concentrations. Results - A total of 33% of the variation in serum C4 concentrations could be accounted for by both C4A and C4B GCNs (R2 = 0.30, P ≤ 0.0001). There was a median of 2 gene copies at the C4A locus (53.8%) and 2 at the C4B locus (58.7%). The median total number of C4 genes was 4 (55.4%). C4 GCN-specific normal ranges were established. A chronically low serum C4 concentration was explained by a low C4 GCN in 3 of 11 patients tested. Conclusion - This study establishes the feasibility of establishing C4 GCN-specific normal ranges using the TaqMan real-time PCR assay. Chronically low serum C4 concentrations in SLE patients are sometimes explained by low C4 GCNs.

dc.publisherJohn Wiley & Sons, Inc.
dc.titleEstablishment of Gene Copy Number–Specific Normal Ranges for Serum C4 and Its Utility for Interpretation in Patients With Chronically Low Serum C4 Concentrations
dc.typeJournal Article
dcterms.source.volume66
dcterms.source.number9
dcterms.source.startPage2512
dcterms.source.endPage2520
dcterms.source.issn2326-5191
dcterms.source.titleArthritis and Rheumatology
curtin.note

This is the accepted version of the following article: Margery-Muir, A. and Wetherall, J. and Castley, A. and Hew, M. and Whidborne, R. and Mallon, D. and Martinez, P. et al. 2014. Establishment of Gene Copy Number–Specific Normal Ranges for Serum C4 and Its Utility for Interpretation in Patients With Chronically Low Serum C4 Concentrations. Arthritis and Rheumatology. 66 (9): pp. 2512-2520., which has been published in final form at http://doi.org/10.1002/art.38680

curtin.departmentSchool of Biomedical Sciences
curtin.accessStatusOpen access


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