【摘要】 目的通过对中国北方汉族人正常人群与强直性脊柱炎(AS)患者白细胞抗原B27(HLA-B27)等位基因亚型的分布进行比较分析,试图发现AS的易感基因。方法用聚合酶链反应-序列特异性引物高分辨技术(PCR-SSP)对118例HLA-B27阳性的北方汉族AS患者和150例HLA-B27阳性北方汉族正常人进行HLA-B27等位基因亚型分型。结果正常人与AS患者HLA-B27亚型分布频率不同,正常人B*2705比例最高,占49.33%(74/150);其次分别为B*2704,占40%(60/150);B*2707,占8.67%(13/150);B*2706,占2%(3/150)。AS患者B*2704比例最高,占61.02%(72/118);其次分别为B*2705,占38.98%(46/118);B*2706,占0.85%(1/118)。在AS患者中未检测到2707亚型。B*2704、B*2705、B*2706亚型均与AS有关联,其关联程度以B*2704为最强(RR=84.24,x2=70.77,P<0.01),其次为B*2705(RR=30.39,x2=36.98,P<0.01),再其次为B*2706(RR=10.77,x2=6.59,P<0.05),而B*2707与AS呈负相关(RR=0,X2=24.39,P<0.01)。结论中国北方汉族人群AS患者主要的相关性基因为B*2704和B*2705,但B*2704是中国北方汉族人发生AS的更加危险基因;HLA-B*2707可能是一种保护性基因,尚需进行更大样本和多人种的调查。更多还原

【Abstract】 Objective To explore the genetic susceptility to ankylosing spondylitis(AS) by analysing the distribu-tion of HLA-B27 alleles subtypes in patient with AS and control group with positive HLA-B27 alleles. Methods HLA-B27 allells subtypes were detected among 118 patients with AS and 150 HLA-B27 positive stem cell donors by high reso-lution PCR- SSP. Results ① The distribution of HLA-B27 alleles subtype in patients with AS and the controles was dif-ferent. In the control group, the subtype with the highest frequency was B*2705, accounted for 49.33%(74/150), B*2704 for 40%(60/150), B*2707 for 8.67%(13/150), B*2706 for 2%(3/150). In patient group the subtype with the highest fre- quency was B*2704, accounted for 61.02%(72/118) and B*2705 for 38.98 (46/118), while B*2706 for 0.85 (1/118), no B*2707 was detected. ② HLA- B *2704- 06 alleles was positively associated with AS, B*2704 was the strongly associated allele (RR=84.24,x2=70.77, P<0.005), followed by B*2705(RR=30.39, x2=36.98, P<0.005) and B*2706(RR=10.77, x2= 6.59, P<0.025), B*2707 allele was negatively associated with AS (RR=0,x2=24.39,P<0.005). Conclusions B*2704 and B*2705 were susceptible genes and B*2704 may be the high risk gene in Chinese Northern Han populations, B*2707 may be a protective gene, but it needs further study on a larger samples and different races.更多还原