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研究生:施浤彰
研究生(外文):Hung-Chang Shih
論文名稱:台灣人僵直性脊椎炎的發病與HLA-B2704同合子有關
論文名稱(外文):Positive Association of Ankylosing Spondylitis with Homozygous HLA-B27, but Protection with B2705 in Taiwan Chinese
指導教授:陳昇明陳昇明引用關係張建國張建國引用關係
指導教授(外文):Johannes Scheng-Ming TschenJan-Gowth Chang
學位類別:碩士
校院名稱:國立中興大學
系所名稱:生命科學院碩士在職專班
學門:生命科學學門
學類:生物學類
論文種類:學術論文
論文出版年:2002
畢業學年度:90
語文別:中文
論文頁數:55
中文關鍵詞:僵直性脊椎炎人類白血球抗原
外文關鍵詞:Ankylosing SpondylitisHuman lymphocyte antigenHLA
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僵直性脊椎炎(Ankylosing spondylitis, AS)是常見的慢性病之一,有超過90%以上的病人為人類白血球抗原 (Human lymphocyte antigen, HLA) HLA-B27抗原陽性。我們利用Polymerase chain reaction-restrictive fragment length polymorphism, PCR-RFLP的方法分析HLA-B27的亞型與僵直性脊椎炎的關係。我們發現在738位年紀超過65歲的正常人中,有42位(5.69%)為HLA-B27抗原陽性;其中6位(14.3%)為B2704的同合子;18位(42.9%)為B2704的異配子;2位(4.8%)同時有B2704及B2705, 1位(2.3%)同時有B2704及B2706;2位(4.8%)為B2705的同合子;11位(26.1%)為B2705的異配子及2位(4.8%)為B2706的異配子。而在62位罹患僵直性脊椎炎的病人中,37位(59.6%)為B2704的同配子;而25位(40.3%)則為B2704的異配子。由此可知,HLA-B27的帶原率在台灣地區約為5.69%左右,而同合子的B2704與僵直性脊椎炎的發病有關,但在本研究中發現B2705可能具有保護作用。

The study was undertaken to determine the effects of HLA-B27 subtypes on susceptibility to ankylosing spondylitis (AS) in Taiwan Chinese. A polymerase chain reaction-restrictive fragment length polymorphism (PCR-RFLP) method was developed for subtyping of HLA-B27. In this series, there are 62 patients with AS who were tested HLA-B27 positive serologically and 738 normal persons over the age of 65. Among the 738 normal controls, 42 (5.7%) were HLA-B27 positive. There were six (14.3%) homozygous for B2704, 18 (42.9%) heterozygous for B2704, 2 (4.8%) double heterozygous for B2704 and B2705, one (2.3%) double heterozygous for B2704 and B2706, 2 (4.8%) homozygous for B2705, 11 (26.1%) heterozygous for B2705, and 2 (4.8%) heterozygous for B2706. In our patients with AS, 37 (59.7%) were homozygous for B2704 and 25 (40.3%) were heterozygous for B2704. The HLA-B27 carrier rate in Taiwan healthy old persons is estimated as 5.69%. Susceptibility to AS is determined by homozygosity for B2704. However, B2705 may be an indicator of protection against AS in Taiwan Chinese.

中文摘要……………………………………………………… I
英文摘要……………………………………………………… II
目次…………………………………………………………… III
圖次…………………………………………………………… IV
表次…………………………………………………………… V
壹、緒言……………………………………………………… 1
貳、文獻探討………………………………………………… 3
一、致病機轉…………………………………………… 4
二、臨床症狀…………………………………………… 6
三、臨床診斷…………………………………………… 9
四、治療與諮詢………………………………………… 12
參、材料與方法……………………………………………… 15
一、材料………………………………………………… 15
二、方法………………………………………………… 16
1. DNA萃取步驟…………………………………… 16
2.PCR條件設定…………………………………… 18
3.PCR偵測B27及B7301………………………… 19
4.PCR-RFLP analysis of HLA-B27 subtypes……… 20
5.DNA片段的定序分析…………………………… 23
6.統計分析………………………………………… 24
肆、結果……………………………………………………… 25
伍、討論……………………………………………………… 28
陸、參考文獻………………………………………………… 31
附錄一:聚合酶鏈鎖反應原理(Polymerase chain
reaction, PCR)……………………………………… 43
附錄二:本論文所使用之所有限制酶……………………… 45

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