Molecular characterization of the complement C1q, C2 and C4 genes in Brazilian patients with juvenile systemic lupus erythematosus
| Autor: | Silvia Yumi Bando, Natalia Umetsu, Clovis A. Silva, Adriana Almeida de Jesus, Bernadete L. Liphaus, Magda Carneiro-Sampaio |
|---|---|
| Rok vydání: | 2015 |
| Předmět: |
Complement deficiency
Silent mutation medicine.medical_specialty Adolescent Gene Expression Mothers Stimulation Biology Real-Time Polymerase Chain Reaction Juvenile systemic lupus erythematosus Non-coding region Exon Reference Values Risk Factors immune system diseases Internal medicine Gene expression medicine Humans Lupus Erythematosus Systemic Genetic Predisposition to Disease Interferon gamma C1q C2 and C4 genes Child skin and connective tissue diseases Genetic Association Studies lcsh:R5-920 Lupus erythematosus Base Sequence Complement component 2 Complement C1q Complement C4 General Medicine Complement C2 medicine.disease Real-time polymerase chain reaction Endocrinology Case-Control Studies Mutation Immunology Female lcsh:Medicine (General) Brazil Rapid Communication medicine.drug |
| Zdroj: | Clinics; v. 70 n. 3 (2015); 220-227 Clinics; Vol. 70 Núm. 3 (2015); 220-227 Clinics; Vol. 70 No. 3 (2015); 220-227 Clinics Universidade de São Paulo (USP) instacron:USP Clinics, Vol 70, Iss 3, Pp 220-227 (2015) |
| ISSN: | 1807-5932 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: | OpenAIRE |
| Externí odkaz: |
|