鲁西南汉族HLA-B27基因亚型分布与强直性脊柱炎的关联研究

Distribution of HLA-B27 subtypes in Han Chinese population of southwest Shandong and their association with ankylosing spondylitis

目的:调查鲁西南汉族人群中正常人和强直性脊柱炎(AS)患者的HLA-B*27基因亚型的频率分布状况,并分析HLA-B*27亚型与AS的相关性。方法:对826名正常人(对照组)、76例AS患者(AS组)采用特异性引物聚合酶链反应技术(PCR-SSP)进行HLA-B*27基因及亚型检测。结果:在正常组和AS组中,共检出了11种HLA-B*27亚型,2组均以B*2704和B*2705亚型为优势亚型,2亚型分别为38.8%和41.8%。2组间的B*2704和B*2705亚型的构成比差异无统计学意义。结论:HLA-B*2704和HLA-B*2705是鲁西南地区汉族人群AS的易感基因,与鲁西南地区汉族人群AS的发病呈强相关。

Objective：To investigate the frequency of HLA-B ＊ 27 gene and the distribution of its alleles in healthy individuals and patients with ankylosing spondylitis（AS）in Chinese Han nationality of Shandong region, and to analyze the association between the heterogeneity of HLA B27 and AS. Method： HLA-B ＊ 27 alleles in 826 cases of healthy individuals and 76 cases of AS patients were typed by PCR amplification with sequence-specific primers. Result：Eleven HLA-B＊ 27 genotypes were determined in healthy individuals and AS patients. HLA-B ＊ 2704 and HLA-B＊ 2705 were the two high frequency genotypes,with a genotype frequency of 38.8% and 41.8%. HLA B ＊ 2702 was detected only in one case in the AS patients,and HLA-B＊ 2701, HLA B ＊ 2713 and HLA-B 2721 were detected only in one case in the controls respectively. Conclusion： HLA-B ＊ 2704 and HLA B ＊2705 were the primary genes susceptive to AS in Chinese Han nationality of southwestern Shandong, which were strongly associated with AS.