武汉地区十二指肠溃疡患者和HLA-DQA1基因关联的初步研究

目的探讨武汉地区汉族人ＨＬＡ－ＤＱＡ１基因与十二指肠溃疡的遗传关联。方法应用ＨＬＡ基因的聚合酶链反应－限制性片段长度多态性核苷酸分型技术，以等位基因特异性的限制性内切酶（ＡｐａｌⅠ、ＢｓａｊⅠ、ＨｐｈⅠ、ＦｏｋⅠ、ＭｂｏⅡ、ＭｎｌⅠ）消化ＤＱＡ１座位特异的ＰＣＲ扩增产物，对７０例十二指肠溃疡患者、５０例正常人的ＨＬＡ－ＤＱＡ１等位基因进行分析。结果十二指肠溃疡患者ＤＱＡ１＊０３０１等位基因频率与正常对照组明显增高，差异有显著性（Ｐ＝０．００３，ＲＲ＝３．２０，Ｐｃ＝０．０２４）。结论ＤＱＡ１＊０３０１与十二指肠溃疡有一定关联，十二指肠溃疡患者与正常人之间存在着免疫遗传异质性的差异。

HLA-DQA1 genes involved in the genetic susceptibility to duodenal ulcer in Wuhan Hans

OBJECTIVE: To study the genetic susceptibility of HLA-DQA1 alleles to duodenal ulcer in Chinese Hans from Wuhan and its nearby regions. METHODS: Seventy patients with duodenal ulcer and fifty healthy controls were examined for HLA-DQA1 genotypes. HLA-DQA1 typing was carried out by digesting the locus specific polymerase chain reaction amplified products with alleles specific restriction enzymes (PCR-RFLP), Apal I, Basj I, Hph I, Fok I, Mbo II and Mnl I. RESULTS: The allele frequency of DQA1 0301 in patients with duodenal ulcer (64.3%) was significantly higher than that in healthy controls (36%). In contrast, the allele frequency of DQA1 0102 in patients with duodenal ulcer (8.6%) was significantly lower than that in healthy controls (26%). CONCLUSION: These findings suggest that DQA1 0301 is a susceptible gene for duodenal ulcer in Wuhan Hans while DQA1 0102 is its resistant gene, and there are immunogenetic differences in HLA-DQA1 locus between duodenal ulcer patients and healthy controls.