某地区维吾尔族强直性脊柱炎患者HLA-B27亚型频率分布

Human leukocyte antigen-B27 alleles in Uygur patients with ankylosing spondylitis in some district

目的探讨新疆维吾尔族强直性脊柱炎(AS)患者HLA-B27亚型的分布特点。方法采用PCR-SBT法对维吾尔族AS患者进行HLA-B27亚型检测,并与当地汉族及国内其他地区已报道的AS患者HLA-B27亚型分布特点进行对比分析。结果维吾尔族AS患者中B*2705表现型频率(55.56%)最高,显著高于本地区汉族AS患者B*2705频率(P<0.05),也高于国内其他地区报道的汉族AS患者B*2705频率(山东地区63.89%除外)。维吾尔族AS患者中B*2704表现型频率(25%)是迄今国内报道中的最低频率,明显低于本地区汉族(P<0.05)和国内其他地区报道的B*2704表现型频率。维吾尔族AS患者中还检测到B*2702、B*2707、B*2710 3种亚型,其中B*2710亚型系国内首次报道;本地区汉族AS患者以B*2704(65.22%)表现型为主,其次为B*2705(26.09%)的特点与国内其他大部分地区汉族AS患者B27亚型频率分布特点一致。汉族AS患者中检测到2例B*2715亚型,系国内第2次报道;另检测到B*2702/B*2704及B*2704/B*2705存在2个位点的纯合子各1例,其中B*2702/B*2704在国内首次报道。结论新疆地区的维吾尔族AS患者HLA-B27等位基因的表达和频率有着与本地区及国内其他地区汉族人群显著不同的特征。在新疆开展不同民族HLA-B27等位基因亚型分布规律的调查研究对于人类遗传学研究和分析各类人群遗传背景对AS疾病易感性的影响将具有重要意义。

Objective To investigate the distribution of HLA B27 subtypes in Uygur ankylosing spondylitis patients in Xin- jiang. Methods B27 positive patients with ankylosing spondylitis were subtyped by using PCR-SBT. The HLA-B27 subtype frequencies of Uygur patients were compared with that of Han patients in Xinjiang and the other areas of China. Results B＊ 2705 was the predominant subtype in Uygur patients with a frequency of 55.56% ,which was milch more higher than that in Han patients in Xinjiang and the other areas of China. To date,the frequency of B.2704 in Uygur patients was the lowest,significantly lower than that in Han patients. Additionally,three other alleles were identified in Uygur patients：B.2702,B.2707 and B＊ 2710. B＊ 2710 had not been previously reported in Chinese ankylosing spondylitis patients;B.2704 was the main（65.22%）subtype in Han patients in Xinjiang,and was similar to the characteristics of Han patients in the other areas of China. B.2715 was detected in two Han patients and was reported in China for the second time. B.2702/B.2704 and 13.2704/B.2705 homozygotes were identified in two Hart patients respectively. B.2702/B.2704 homozygote was identified in Chinese for the first time. Conclusion The distribution of HLA-B27 subtypes in Uygur ankylosing spondylitis patients in Xinjiang was significantly different from that in Han patients. To study the distribution of HLA B27 subtypes in ethnic minority populations of Xinjiang was of great significance for anthropological genetic study and analyzing the impact of genetic background on ankylosing spondylitis susceptibility.