人类白细胞抗原DQA1等位基因与桥本甲状腺炎的相关性研究  

Correlation between Hashimoto's thyroiditis and HLA-DQA1 alleles

作　　者：刘伏玲[1] 马咸成[1] 倪晓燕[1] 刘戈力[1] 叶大勋[1] 

机构地区：[1]天津医科大学总医院儿科,300052

出　　处：《中华儿科杂志》2001年第3期145-147,共3页Chinese Journal of Pediatrics

基　　金：天津市科委自然科学基金!资助项目 ( 963 10 8411)

摘　　要：目的　研究人类白细胞抗原DQA1(HLA DQA1)等位基因与桥本甲状腺炎 (HT)的相关性。方法　采用聚合酶链反应 限制性片段长度多态性 (PCR RFLP)基因分型技术 ,对 5 1例HT患儿及5 1名正常儿童对照进行了HLA DQA1基因分型并计算比较其基因频率。所有研究对象均为天津汉族儿童。结果　在HT组 ,HLA DQA1 0 30 1等位基因频率明显高于正常对照 (44 12 %对 2 8 43% ,RR =1 99,P <0 0 2 5 )而HLA DQA1 0 2 0 1等位基因频率则明显低于正常对照 (5 88%对 18 6 3% ,RR =0 2 7,P <0 0 1)。结论　HLA DQA1 0 30 1可能是HT的一个易感等位基因 ,而HLA DQA1 0 2 0 1则可能是一个保护等位基因 ,HT的发病与HLA DQA1基因位点密切相关。Objective Hashimoto′s thyroiditis is a common autoimmune thyroid disorder. It has been known that there is a close correlation between the hereditary susceptibility of Hashimoto′s thyroiditis and certain HLA alleles. The alleles of HLA class II region play a significant role in Hashimoto′s thyroiditis occurrence. The aim of this study was to investigate the correlation between the hereditary susceptibility of Hashimoto′s thyroiditis and HLA DQA1 alleles. Methods The allelic types of HLA DQA1 were detected by using polymerase chain reaction restriction fragment length polymorphism (PCR RFLP) technique in 51 cases of Hashimoto′s thyroiditis and 51 normal children. All the 51 patients (2 males and 49 females) were Tianjin Hans. Eleven of them had family histories of the similar disease. The mean age was 10.7±1.72 years, ranging from 6 to 13. As control, fifty one female healthy children were chosen from the same geographic region. They were all Hans and at similar age. No one had a personal or family history of thyroid disorders. DNA was extracted from peripheral white blood cells. The second exons of HLA DQA1 were amplified with PCR. Digestions of the amplified DNA segments were carried out with 4 kinds alleles specific restriction endonucleases. Agarose gel electrophoresis was used for HLA DQA1 genotyping. Results The frequency of HLA DQA1*0301 was significantly increased in Hashimoto′s thyroiditis group (44 12% vs. 28 43%, RR =1.99, P <0.025) and the frequency of HLA DQA1*0201 was significantly decreased in Hashimoto′s thyroiditis group (5.88% vs. 18.63%, RR =0.27, P <0.01).Conclusion HLA DQA1*0301 may be a correlative gene of Hashimoto′s thyroiditis, whereas HLA DQA1*0201 may be a defensive gene of this disease, which suggests that there may be a certain correlation between the development of Hashimoto′s thyroiditis and HLA DQA1 gene.

关 键 词：自向免疫性甲状腺炎 HLA-DQ抗原 桥本病 等位基因 基因多态性 限制性片段长度 

分 类 号：R581.4[医药卫生—内分泌]