| Autor: |
Bernadete L. Liphaus, Natalia Umetsu, Adriana A. Jesus, Silvia Y. Bando, Clovis A. Silva, Magda Carneiro-Sampaio |
| Jazyk: |
angličtina |
| Rok vydání: |
2015 |
| Předmět: |
|
| Zdroj: |
Clinics, Vol 70, Iss 3, Pp 220-227 (2015) |
| Druh dokumentu: |
article |
| ISSN: |
1980-5322 |
| DOI: |
10.6061/clinics/2015(03)12 |
| Popis: |
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 |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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