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探讨安徽籍汉族人群ＨＬＡＤＱＡ１等位基因多态性与系统性红斑狼疮（ＳＬＥ）及其抗体的相关关系。方法采用多聚酶链反应／限制性片断长度多态性（ＰＣＲ／ＲＦＬＰ）方法，对２８例ＳＬＥ患者和２８例健康对照血样ＨＬＡＤＱＡ１基因进行分析，寻找相关的基因型。同时分析ＳＬＥ特异性抗体与基因型的关系。结果安徽籍汉族ＳＬＥ患者具有显著高的ＤＱＡ１０１０１或０１０２，二者总ＯＲ＝６９２，Ｐ＜０００５，未发现其它ＤＱＡ１等位基因与ＳＬＥ相关。同时发现抗ｄｓＤＮＡ抗体、抗Ｓｍ抗体阳性数与ＤＱＡ１０１０１和０１０２相关的程度均大于其它几类基因型。结论安徽籍汉族ＳＬＥ相关联的基因并不完全等同于其它地区汉族人，但均通过影响特异性抗体的产生而与疾病相关。结果为进一步研究安徽籍汉族人ＳＬＥ的遗传易感度、家族患病机率的估计提供线索。
To investigate the relationship between HLA-DQA1 alleles and systemic lupus erythematosus (SLE) and their antibodies in Anhui Han nationality population. Methods The polymerase chain reaction / restriction fragment length polymorphism (PCR / RFLP) method was used to analyze the HLA-DQA1 gene in 28 SLE patients and 28 healthy controls to find out the related genotypes. The relationship between SLE-specific antibodies and genotypes was also analyzed. Results There was a significantly higher DQA1 0101 or 0102 in SLE patients of Han nationality in Anhui province. The total OR = 692, P <0005, no other DQA1 alleles were found to be associated with SLE. Also found that anti- dsDNA antibody, anti- Sm antibody positive number and DQA1 0101 and 0102-related degrees are greater than the other types of genotypes. Conclusions The genes associated with SLE in Han nationality in Anhui Province are not completely identical with Han Chinese in other regions, but all of them are related to the disease by affecting the production of specific antibodies. The results provide clues for further studying the genetic susceptibility of SLE in Anhui province and estimating the prevalence of familial disease.