十二指肠球溃疡患儿HLA-DQA1等位基因频率的研究

目的探讨人类ＨＬＡＤＱＡ１基因位点上是否存在与十二指肠球溃疡相关的易感基因或抵抗基因，研究其与遗传的相关性。方法采用非同位素标记的聚合酶链反应－序列特异性寡核苷酸探针（ＰＣＲＳＳＯ）杂交的方法，对５９例十二指肠球溃疡及８５名正常对照儿童作了ＨＬＡＤＱＡ１等位基因的检测。结果ＨＬＡＤＱＡ１０３等位基因频率在十二指肠球溃疡患儿（ＡＦ３３．０５％，ＯＲ＝０．３５２，Ｐ＝０．０２５）明显低于正常健康儿童（ＡＦ４２．３５％）。结论在ＨＬＡＤＱＡ１基因位点上，十二指肠溃疡患儿和正常对照组儿童存在着遗传学的差异，ＨＬＡＤＱＡ１０３等位基因对十二指肠球溃疡可能具有重要的抵抗作用，当此基因频率在人群中减少时，易发生十二指肠球溃疡。

Study on HLA-DQA1 allelic frequency in children with duodenal ulcer

Objective To explore the mechanism of association between human leukocyte antigen (HLA) and duodenal uldcer and to search for the possible existence of susceptibility or resistance gene to the disease. Methods We used polymerase chain reactionsequence specific oligonucleotide (PCRSSO) labeled by nonradioactive method to study the HLADQA1 allelic frequency distribution of 59 DU patients and 85 Chinese children were as control group. Results The allelic frequency of HLADQAl*03 decreased more significantly in DU (AF33.05%,OR=0.352,P=0.025) than that in control group(AF42.35%). Conclusion There are genetic differences in the HLADQA1 locus between DU and healthy controls. HLAQDA1*03 gene has resistance against DU. Decrease in the gene frequency among general population increases the susceptibility to duodenal ulcer.