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Molecular characterization of the complement C1q, C2 and C4 genes in Brazilian patients with juvenile systemic lupus erythematosus
- Source :
- Clinics, Vol 70, Iss 3, Pp 220-227 (2015)
- Publication Year :
- 2015
- Publisher :
- Elsevier España, 2015.
-
Abstract
- OBJECTIVE: To perform a molecular characterization of the C1q, C2 and C4 genes in patients with juvenile systemic lupus erythematosus. METHODS: Patient 1 (P1) had undetectable C1q, patient 2 (P2) and patient 3 (P3) had decreased C2 and patient 4 (P4) had decreased C4 levels. All exons and non-coding regions of the C1q and C2 genes were sequenced. Mononuclear cells were cultured and stimulated with interferon gamma to evaluate C1q, C2 and C4 mRNA expression by quantitative real-time polymerase chain reaction. RESULTS: C1q sequencing revealed heterozygous silent mutations in the A (c.276 A>G Gly) and C (c.126 C>T Pro) chains, as well as a homozygous single-base change in the 3′ non-coding region of the B chain (c*78 A>G). C1qA mRNA expression without interferon was decreased compared with that of healthy controls (p
Details
- Language :
- English
- ISSN :
- 19805322
- Volume :
- 70
- Issue :
- 3
- Database :
- Directory of Open Access Journals
- Journal :
- Clinics
- Publication Type :
- Academic Journal
- Accession number :
- edsdoj.77e14f9344e14957b00fe05c440a897d
- Document Type :
- article
- Full Text :
- https://doi.org/10.6061/clinics/2015(03)12