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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。
Objective To investigate the genetic association between HLA-DQA1 gene and duodenal ulcer in Han nationality in Wuhan. Methods The allele-specific restriction endonucleases (ApalⅠ, BsajⅠ, HphⅠ, FokⅠ, MboⅡ, MnlⅠ) were digested by polymerase chain reaction-restriction fragment length polymorphism (PCR) DQA1 locus-specific PCR amplification products were used to analyze HLA-DQA1 alleles in 70 patients with duodenal ulcer and 50 normal individuals. Results The frequency of DQA1 * 0301 allele in patients with duodenal ulcer was significantly higher than that in normal controls (P = 0.003, RR = 3.20, Pc = 0.024). Conclusion DQA1 * 0301 is associated with duodenal ulcer. Differences of immune genetic heterogeneity exist between patients with duodenal ulcer and normal subjects.