Genomic and molecular genetic study of systemic lupus erythematosus in a Chinese population in Taiwan
| Autor: | Li-Jen Tsai, 蔡麗忍 |
|---|---|
| Rok vydání: | 2006 |
| Druh dokumentu: | 學位論文 ; thesis |
| Popis: | 95 SLE is a complex disease for which many susceptibility loci have been identified. Our strategy is to use candidate gene case-control association study, and then followed by a family-based association study. The criteria for the selection of candidate genes include two: 1. Depend on inflammation symptoms. 2. Depend on the auto-antibodies generation and clean-up. We have selected 11 candidate genes including IL1RN, IL1-b, TNF-α, LTA, etc. To simplify the phenotype and stratify our genotype result, we use MEX-SLEDAI score to correlate the genotype and phenotype. After our study we have known that the SLE disease activity index could simplify the phenotype and stratify the genetic approach in genetic study of SLE. Use this tree model, we have found candidate genes, IL1RN, IL1-b, TNF-α, LTA, their molecular mechanism involved in this disease. Using RT-PCR to determine the expression pattern of IL1RN isoforms, we found different expression patterns between normal controls and SLE patients, with an addition of IL1RN isoform 4 or the low expression of IL1RN isoform 1. This different expression patterns may depend on different alternative splicing activity. |
| Databáze: | Networked Digital Library of Theses & Dissertations |
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