利用Fas基因變異多型性探討在紅斑性狼瘡患者中之風險因子

The association of Fas single nucleotide polymorphisms in SLE patient's risk factor

張瑜芬(Yu-Fen Change)

指導教授 ： 高邵軒

中山醫學大學/醫學院/生化暨生物科技研究所/碩士(2011年)

摘要

單一核酸變異多型性 (Single Nucleotide polymorphisms, SNP)已經廣泛的運用於辨識各式的腫瘤病患、其特性與標靶治療之根據已經為全世界所關注；然而，在自體免疫疾病上，比方紅斑性狼瘡 (Systemic Lupus Erythematosus, SLE) 仍然沒有太多基因被定型，且族群分散，比方亞洲病患之基因型態目前並不知道是否與歐美國家所做出之研究相似或不同，本實驗使用病例-控制試驗的方法，其中30人為SLE病患組；對照組有30人為一般體檢之健康人。我們利用分析PCR-BsrDI-digested DNA片段來偵測FasL基因在promoter -844位置的基因多型性。我們發現SLE組中FasL之SNP變異皆為C/C為主、C/T次之，，各佔比例為66.7%與23.3%；而健康之控制組中，其FasL之SNP之變異性主要仍C/C為主、C/T次之，所佔比例分別為53.33%、16.67%；惟C/C比例以SLE組為高些，SNP變異之統計P-Value計算，以證實C/C為其主要變異，且P < 0.05。由實驗結果我們可以推論:台灣中南部族群顯示出在SLE疾病之中，FasL在區域上有其特異變異性存在。

關鍵字

Fas基因變異多型性

並列摘要

Single Nucleotide polymorphisms ( SNP) already the widespread utilization in recognized various types tumor sickness, its characteristic and the target treatment basis of already paid attention for the world; However, from the body immunity disease, the analogy erythemathetic lupus (Systemic Lupus Erythematosus, SLE) still did not have too the polygenes to finalize, and the tribal grouping tribal group is scattered, gene of state the analogy Asia sickness did not know at present whether to make the research with the European and American countries similar or different, this experiment uses the case pneumatic control experiment the method, 30 artificial SLE sickness group; The control group has healthy personses of the 30 artificial common physical examination. We use analyze PCR-BsrDI-digested the DNA fragment to detect the FasL gene in promoter -844 position gene pleomorphism. We discover in the SLE group SNP of variation the FasL all are C/C primarily, the C/T next best, accounts for the proportion is respectively 66.7% and 23.3%; But baseline group in the health, changeability of its FasL SNP of mainly still C/C primarily, the C/T next best, accounted for the proportion respectively was 53.33%, 16.67%; Only the C/C proportion take the SLE group as high, the SNP variation counts the P-Value computation, confirmed that C/C is its main variation, and P < 0.05. We may deduce by the experimental result: South central Taiwan the tribal grouping tribal group demonstrated in the SLE disease, FasL has its special changeability existence in the region.respectively was 53.33%, 16.67%; Only the C/C proportion take the SLE group as high, the SNP variation counts the P-Value computation, confirmed that C/C is its main variation, and P < 0.05. We may deduce by the experimental result: South central Taiwan the tribal grouping tribal group demonstrated in the SLE disease, FasL has its special changeability existence in the region

並列關鍵字

Fas single nucleotide polymorphisms

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