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背景:少儿强直性脊柱炎(juvenile ankylosing spondylifts,JAS)和幼儿类风湿关节炎(juvenile rheumatoid arthritis,JRA)与HLA-B27抗原关联研究已近25年历史,国外有学者报道强直性脊柱炎(ankylosing spondylitis,AS)和关节炎与HLA-B27等位基因亚型关联不同。 目的:探讨HLA-B27等位基因亚型与JAS和JRA的关联性及其在发病机制中的作用,以期能够找到早期诊断JAS检测方法。 设计:非随机对照的实验研究。 地点、对象和方法:纳入60例北京儿童医院住院及门诊的JAS和JRA患者,5个家系中患者的父亲或母亲5例及9例正常个体(来源于200多例健康自愿骨髓移植供者)。用PCR/SSP方法对74例HLA-B27等位基因亚型进行研究,并进行关联分析。 主要观察指标:JAS和JRA与HLA-B27等位基因亚型相关性分析;HLA-B~* 2704等位基因在JAS和JRA中的差异;家系资料;单倍型分析;纯合子分析。表明HLA-B~* 2704与C~* 1202连锁紧密而与HLA-A连锁不紧密,JAS有明显家族遗传倾向。 结果:本组人群的HLA-B27等位基因由HLA-B~* 2704,~* 2705,~* 2702,~* 2707 4种亚型组成,其中JAS患者HLA-B27等位基因亚型频率B~* 2704为56.25％;B~* 2705为40.63％;B~* 2702为313％;JRA HLA-B27等位基因亚型频率为B~* 2705为60.7％;B~* 2704为28.57％;B~* 2702为3.57％?
BACKGROUND: Juvenile ankylosing spondylifts (JAS) and juvenile rheumatoid arthritis (JRA) have been linked to HLA-B27 antigen for nearly 25 years. Some scholars have reported that ankylosing spondylitis (ankylosing spondylitis) spondylitis, AS) and arthritis are associated with different HLA-B27 allelic subtypes. OBJECTIVE: To investigate the association between HLA-B27 alleles and JAS and JRA and its role in pathogenesis in order to find an early diagnosis method for JAS. Design: Non-randomized controlled experimental study. Location, Subjects and Methods: 60 JAS and JRA patients hospitalized and outpatient at Beijing Children’s Hospital were enrolled. Among 5 pedigrees, 5 were fathers or mothers and 9 were normal individuals (more than 200 healthy volunteer bone marrow transplant donors) . 74 cases of HLA-B27 allelic subtypes were studied by PCR / SSP method and correlated analysis. MAIN OUTCOME MEASURES: Association analysis of JAS and JRA with HLA-B27 allelic subtype; Differences of HLA-B * 2704 alleles in JAS and JRA; Pedigree data; Haplotype analysis; Homozygous analysis. The results showed that HLA-B * 2704 was closely linked with C ~ 1202 but not tightly linked with HLA-A, and JAS had obvious familial genetic predisposition. Results: The HLA-B27 alleles in this population consisted of four subtypes, HLA-B * 2704, * 2705, ~ * 2702, and * 2707, in which the HLA-B27 allele subtype B The frequencies of HLA-B27 alleles of JRA were 60.7% for B * 2705 and 28.57% for B * 2704, respectively. B ~ * 2702 is 3.57%?