HLA-B*51亚型在behaperet患者葡萄膜炎中的评价

E. Balkan, Nilnur Eyerci, Sadullah Keleş, O. Ates, H. Doğan, İ. Pirim, Aslı Kara
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摘要

目的:HLA-B*51等位基因是白塞病(BD)发病的重要遗传因素。这种关系已经在不同的种族群体中得到证实,许多研究表明B*51蛋白编码区域的序列发生了变化。迄今为止,已鉴定出116种不同的HLA- b *51亚型(HLA- b *51:01-B*51:122) (IMG/ HLA 3.5.0, June 14, 2011)。本研究调查了根据1990年国际研究小组标准诊断为BD的患者中B*51亚型的分布,与健康对照组相比,B*51阳性。材料和方法:从40例无亲缘关系的B*51阳性BD患者和54例健康志愿骨髓供者中分离DNA。B*51亚型分析采用序列特异性引物聚合酶链反应(PCR-SSP) (One Lambda Inc., CA, USA)。统计分析采用卡方检验和Fisher精确检验(SPSS 17.0版)。结果:B*51亚型与BD患者临床特征及实验室参数无统计学意义(p<0.05)。BD患者与对照组B*51亚型发生频率无显著差异。结论:尽管人们一直强调双相障碍与HLA*5101亚型之间的关联,这在土耳其人群和其他民族的双相障碍患者中是一个常见的发现,但该亚型在对照组中以相当的频率存在,表明双相障碍的发展并非仅归因于HLA*5101。我们的数据表明,除了遗传因素外,某些环境因素也对双相障碍的发生起作用
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Evaluation of HLA-B*51 Subtypes in Behçet's Patients with Uveitis
Aim: The HLA-B*51 allele has been determined to be the most important genetic factor in the pathogenesis of Behcet’s disease (BD). This relationship has been demonstrated in various ethnic groups and many studies have shown sequence alterations in B*51 protein coding regions. To date, 116 different subtypes of HLA-B*51 (HLA-B*51:01-B*51:122) have been identified (IMG/ HLA 3.5.0, June 14, 2011). This study investigated the distribution of B*51 subtypes in patients diagnosed with BD according to the 1990 International Study Group criteria and positive for B*51 compared to healthy controls. Material and Method: DNA was isolated from 40 unrelated B*51- positive BD patients and 54 healthy volunteer bone marrow donors. B*51 subtype analysis was done by polymerase chain reaction with sequence specific primers (PCR-SSP) (One Lambda Inc., CA, USA). Chi-square and Fisher’s exact tests were used in the statistical analysis (SPSS version 17.0). Results: There were no statistically significant associations between B*51 subtype and BD patients’ clinical characteristics or laboratory parameters (p<0.05). No significant difference was found between BD patients and controls in the frequency of B*51 subtypes. Conclusion: Although there has been much emphasis on the association between BD and the HLA*5101 subtype, which is a common finding in BD patients in the Turkish population and in other ethnic groups, the presence of this subtype at a comparable frequency in the control group indicates that the development of BD is not attributable to HLA*5101 alone. Our data suggest that in addition to genetic factors, certain environmental factors also play a role in the development of BD
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