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51例HT患儿及51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*0301等位基因频率明显高于正常对照（44.12%对28.43%,RR=1.99,P<0.025）而HLA-DQA1*0201等位基因频率则明显低于正常对照(5.88%对18.63%,RR=0.27,P<0.01）。结论HLA-DQA1*0301可能是HT的一个易感等位基因，而HLA-DQA1*0201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。

abstractsObjective Hashimoto′s thyroiditis is a common autoimmune thyroiddisorder. 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.