• 作者： 莊立民; 周祖述; 吳惠培; 張惠敏; 蔡文友; 謝榮峰; 陳光和; 林瑞祥; 戴東和
• 作者服務機構： 台大醫學院內科 小兒科 實驗診斷科 公共衛生研究所 臨床醫學研究所
• 中文摘要： 為了解人類白血球組織抗原DQA1基因及其與DQB1基因之交互作用，在胰島素依賴型糖尿病所扮演的角色，89名
  胰島素依賴型糖尿病病人與44名正常人接受本研究。人類白血球組織抗原DQA1基因型是利用聚合?鏈合成反應（poly-
  merase chain reaction）及特異序列寡核?酸（sequence-specific oligonucleotide）之雜合方法鑑定。在中國人胰島素依賴型
  病患，DQAl＊0301及0501對偶基因較為常見，而DQA1＊0102，0103及0601對偶基因較為少見；在DQA1基因型中，以
  DQA1＊0301∕0301及0301∕0501兩型較易發生胰島素依賴型糖尿病，而DQA1＊0101∕0103及0301∕0601則有保護作用。細
  胞表面的DQ分子是由DQA1/DQBI基因來決定，而所產生的致病分子DQ αβ之數目與胰島素依賴型糖尿病的相對危
  險性有密切關連。結論：DQA1基因和DQB1基因決定致病的DQ αβ分子，兩者均與台灣地區中國人之胰島素依賴型
  糖尿病的發生有關。
  o
• 英文摘要： To study the role of the HLA DQA1 gene and its interaction with DQB1 in the susceptibility ofIDDM, subjects with insulin-dependent (type 1) diabetes mellitus and non-diabetic unrelated controls wererecruited from a Chinese population living in northern Taiwan. HLA DQAI exon 2 was enzymaticallyamplified by polymerase chain reaction. HLA DQAI alleles were diagnosed by dot blotting and hybridi-zation with 11 sequence-specific oligonucleotide probes. Among all the DQA1 alleles, DQAI*0301 andDQAI*0501 were more frequent while DQAI*0102, DQA1*0103 and DQAI*0601 were less frequent inChinese with IDDM than in controls. Among the DQAI genotypes, only DQA1*0301/0301 and DQAI*0301∕0501 were associated with increased risk to IDDM while DQAl*0301/0601 and DQA1*0102/0103 were pro-tective against IDDM in our population. As the cell surface HLA DQ molecules were formed from eachDQAI and DQB1 alleles either in cis- or trans-position, the numbers of susceptible HLA DQαβ hetero-dimers were then derived from the genotypes of HLA DQAl/DQB1 in each person. The numbers ofthe possible diabetogenic DQαβ dimers correlated with the degree of risk to IDDM (r=0.92) but were notstatistically significant (p＞0.05). Subjects with absence of diabetogenic HLA DQ molecules were resistantto developing IDDM while subjects with two or more forms of diabetogenic DQ molecules were associatedwith increased risk to IDDM. In conclusion, both DQAI and DQB1 genes, which determine the formationof susceptible DQαβ heterodimers, were significantly associated with IDDM in Chinese subjects living inTaiwan.
• 中文關鍵字： Chinese; HLA-DQ heterodimer; insulin-dependent diabetes mellitus (IDDM); Taiwan.
• 英文關鍵字： --