A study of the genetic basis of C4A protein deficiency. Detection of C4A gene deletion by long-range PCR and its associated haplotypes

2.50
Hdl Handle:
http://hdl.handle.net/2336/13539
Title:
A study of the genetic basis of C4A protein deficiency. Detection of C4A gene deletion by long-range PCR and its associated haplotypes
Authors:
Kristjansdottir, H; Steinsson, K
Citation:
Scand. J. Rheumatol. 2004, 33(6):417-22
Issue Date:
1-Nov-2004
Abstract:
OBJECTIVE: To study the frequency of a C4A gene deletions as the genetic basis of C4A protein deficiency (C4AQ0) and its associated haplotypes in Icelandic families with systemic lupus erythematosus (SLE). METHODS: Nine multiplex SLE families were genotyped for C4A gene deletions using a long-range polymerase chain reaction (LR-PCR) method, and major histocompatibility complex (MHC) haplotypes were defined. RESULTS: Of the SLE patients, first-degree and second-degree relatives, 53.8%, 47.9%, and 28.6% had C4AQ0, respectively. A C4A gene deletion was found to be the genetic basis for C4AQ0 in 64.3% of SLE patients, 60.0% of first-degree and 50.0% of second-degree relatives. All individuals carrying haplotype B8-C4AQ0-C4B1-DR3 had a deletion, and the deletion was also found on haplotypes B8-C4AQ0-C4B1-DR7 and B7-C4AQ0-C4B1-DR3. CONCLUSION: The study shows that a C4A gene deletion is the most common genetic basis for C4AQ0. It accounts for two-thirds of C4AQ0 and is found on different MHC haplotypes. One-third of C4AQ0 is due to other as yet undefined genetic changes. The results demonstrate a heterogeneous genetic background for C4AQ0, giving further support for the hypothesis that C4AQ0 may be an independent risk factor for SLE.
Description:
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Additional Links:
http://www.ingentaconnect.com/content/tandf/srhe/2004/00000033/00000006/art00010

Full metadata record

DC FieldValue Language
dc.contributor.authorKristjansdottir, H-
dc.contributor.authorSteinsson, K-
dc.date.accessioned2007-09-11T12:49:56Z-
dc.date.available2007-09-11T12:49:56Z-
dc.date.issued2004-11-01-
dc.date.submitted2007-09-11-
dc.identifier.citationScand. J. Rheumatol. 2004, 33(6):417-22en
dc.identifier.issn0300-9742-
dc.identifier.pmid15794202-
dc.identifier.doi10.1080/03009740410011208-
dc.identifier.otherRHE12-
dc.identifier.urihttp://hdl.handle.net/2336/13539-
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.abstractOBJECTIVE: To study the frequency of a C4A gene deletions as the genetic basis of C4A protein deficiency (C4AQ0) and its associated haplotypes in Icelandic families with systemic lupus erythematosus (SLE). METHODS: Nine multiplex SLE families were genotyped for C4A gene deletions using a long-range polymerase chain reaction (LR-PCR) method, and major histocompatibility complex (MHC) haplotypes were defined. RESULTS: Of the SLE patients, first-degree and second-degree relatives, 53.8%, 47.9%, and 28.6% had C4AQ0, respectively. A C4A gene deletion was found to be the genetic basis for C4AQ0 in 64.3% of SLE patients, 60.0% of first-degree and 50.0% of second-degree relatives. All individuals carrying haplotype B8-C4AQ0-C4B1-DR3 had a deletion, and the deletion was also found on haplotypes B8-C4AQ0-C4B1-DR7 and B7-C4AQ0-C4B1-DR3. CONCLUSION: The study shows that a C4A gene deletion is the most common genetic basis for C4AQ0. It accounts for two-thirds of C4AQ0 and is found on different MHC haplotypes. One-third of C4AQ0 is due to other as yet undefined genetic changes. The results demonstrate a heterogeneous genetic background for C4AQ0, giving further support for the hypothesis that C4AQ0 may be an independent risk factor for SLE.en
dc.language.isoenen
dc.publisherTaylor & Francisen
dc.relation.urlhttp://www.ingentaconnect.com/content/tandf/srhe/2004/00000033/00000006/art00010en
dc.subject.meshAge Distributionen
dc.subject.meshBase Sequenceen
dc.subject.meshComplement C4aen
dc.subject.meshGenetic Predisposition to Diseaseen
dc.subject.meshHaplotypesen
dc.subject.meshHeterozygoteen
dc.subject.meshIcelanden
dc.subject.meshLupus Erythematosusen
dc.titleA study of the genetic basis of C4A protein deficiency. Detection of C4A gene deletion by long-range PCR and its associated haplotypesen
dc.typeArticleen
dc.format.digYES-

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