Molecular characterization of the complement C1q, C2 and C4 genes in Brazilian patients with juvenile systemic lupus erythematosus

• Author(s): Liphaus, Bernadete L. ; Umetsu, Natalia ; Jesus, Adriana A. ; Bando, Silvia Y. ; Silva, Clovis A. ; Carneiro-Sampaio, Magda
• Date: 2015
• Origin: Oasisbr
• Document Type: Journal article
• Language: English

Description

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