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dc.contributor.authorGrant, S F
dc.contributor.authorKristjansdottir, H
dc.contributor.authorSteinsson, K
dc.contributor.authorBlondal, T
dc.contributor.authorYuryev, A
dc.contributor.authorStefansson, K
dc.contributor.authorGulcher, J R
dc.date.accessioned2010-08-20T15:54:06Z
dc.date.available2010-08-20T15:54:06Z
dc.date.issued2000-10-20
dc.date.submitted2010-08-20
dc.identifier.citationJ. Immunol. Methods. 2000, 244(1-2):41-7en
dc.identifier.issn0022-1759
dc.identifier.pmid11033017
dc.identifier.doi10.1016/S0022-1759(00)00251-9
dc.identifier.urihttp://hdl.handle.net/2336/110007
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.abstractThe genes coding for the two components of complement 4 (C4), C4A and C4B, are located within the major histocompatibility complex (MHC) on the short arm of chromosome 6. Several studies have shown that deficiency of C4A is associated with systemic lupus erythematosus (SLE), rheumatoid arthritis and scleroderma. A large deletion covering most of the C4A gene and the 21-hydroxylase-A (21-OHA) pseudogene found on the extended haplotype B8-C4AQ0-C4B1-DR3 is estimated to account for approximately two-thirds of C4A deficiency in Caucasian SLE patients. Detection of this C4A null allele has been technically difficult due to the high degree of homology between C4A and C4B, with protein analysis and restriction fragment length polymorphism (RFLP) analysis using Southern blotting being the only approaches available. In this study, a long PCR strategy was used to rapidly genotype for the C4A deletion through specific primer design. The methodology makes use of the unique sequence of the G11 gene upstream of C4A and the sequence of a 6.4 kb retrotransposon, the human endogenous retrovirus HERV-K(C4), which is present in intron 9 of C4A but absent in the case of the deletion.
dc.language.isoenen
dc.relation.urlhttp://dx.doi.org/10.1016/S0022-1759(00)00251-9en
dc.subject.meshAllelesen
dc.subject.meshAutoimmune Diseasesen
dc.subject.meshComplement C4aen
dc.subject.meshComplement C4ben
dc.subject.meshEndogenous Retrovirusesen
dc.subject.meshGene Deletionen
dc.subject.meshGenotypeen
dc.subject.meshHLA-A1 Antigenen
dc.subject.meshHLA-B8 Antigenen
dc.subject.meshHLA-DR3 Antigenen
dc.subject.meshHaplotypesen
dc.subject.meshHumansen
dc.subject.meshPolymerase Chain Reactionen
dc.subject.meshSteroid 21-Hydroxylaseen
dc.titleLong PCR detection of the C4A null allele in B8-C4AQ0-C4B1-DR3en
dc.typeArticleen
dc.contributor.departmentDecode Genetics, Reykjavík, Iceland.en
dc.identifier.journalJournal of immunological methodsen
html.description.abstractThe genes coding for the two components of complement 4 (C4), C4A and C4B, are located within the major histocompatibility complex (MHC) on the short arm of chromosome 6. Several studies have shown that deficiency of C4A is associated with systemic lupus erythematosus (SLE), rheumatoid arthritis and scleroderma. A large deletion covering most of the C4A gene and the 21-hydroxylase-A (21-OHA) pseudogene found on the extended haplotype B8-C4AQ0-C4B1-DR3 is estimated to account for approximately two-thirds of C4A deficiency in Caucasian SLE patients. Detection of this C4A null allele has been technically difficult due to the high degree of homology between C4A and C4B, with protein analysis and restriction fragment length polymorphism (RFLP) analysis using Southern blotting being the only approaches available. In this study, a long PCR strategy was used to rapidly genotype for the C4A deletion through specific primer design. The methodology makes use of the unique sequence of the G11 gene upstream of C4A and the sequence of a 6.4 kb retrotransposon, the human endogenous retrovirus HERV-K(C4), which is present in intron 9 of C4A but absent in the case of the deletion.


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