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

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 decreas

SUBMITTER: Liphaus BL 

PROVIDER: S-EPMC4449463 | biostudies-literature | 2015 Mar

REPOSITORIES: biostudies-literature