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首页> 外文期刊>Journal of Biomedical Science and Engineering >HLA allele frequencies in Iranian opticospinal multiple sclerosis patients——HLA in Opticospinal MS
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HLA allele frequencies in Iranian opticospinal multiple sclerosis patients——HLA in Opticospinal MS

机译：伊朗视脊髓多发性硬化症患者的HLA等位基因频率-视脊髓MS中的HLA

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Background: In Iranian patients with opticospinal multiple sclerosis (OSMS), a paucity of brain lesions and short spinal cord lesions extending less than three spinal segments are characteristic findings on magnetic resonance imaging (MRI). It also shows a relatively benign course with negative CSF oligo-coonal bands. Objective: We aimed to clarify the possible relationship between clinical phenotype and MRI features of OSMS and human leucocyte antigen (HLA) system in Iran. Methods: Genotyping of HLA class II allele frequencies in 20 patients with OSMS were done, using polymerase chain reaction sequence-specific primer amplification method. Blood samples were extracted and typed for HLA-DRB, DQA, and DQB loci and compared with 100 controls. Results: Significant positive association was observed in DRB1*03, DQA1*0201, DQA1*03, DQB1*0201, and DQB1*0611, while DQB1*0602 was absent in our patients. Conclusion: These finding suggest that HLA-DRB association pattern in OSMS is different from conventional MS in Iran which is mostly associated with DRB1*1501 and from similar Japanese OSMS who are negative for brain lesions fulfilling the Barkhof criteria and negative for the presence of longitudinally extensive spinal cord lesions who carries the DRB*0405 allele. OSMS is immunogenetically heterogeneous. Also absence of DQB1*0602 allele may negatively be associated with the absence of Barkhof brain lesion.
机译：背景：在患有视神经脊髓多发性硬化症（OSMS）的伊朗患者中，脑部病变和延伸少于三个脊髓节段的短脊髓病变是磁共振成像（MRI）的特征性发现。它也显示了一个相对良好的过程，即CSF寡核苷酸带为负。目的：我们旨在阐明伊朗的OSMS与人类白细胞抗原（HLA）系统的临床表型和MRI特征之间的可能关系。方法：采用聚合酶链反应序列特异性引物扩增方法，对20例OSMS患者HLA II类等位基因频率进行基因分型。提取血样并针对HLA-DRB，DQA和DQB基因座进行分类，并与100个对照进行比较。结果：在我们的患者中，DRB1 * 03，DQA1 * 0201，DQA1 * 03，DQB1 * 0201和DQB1 * 0611显着正相关，而DQB1 * 0602则不存在。结论：这些发现表明，OSMS中的HLA-DRB关联模式不同于伊朗的常规MS，后者主要与DRB1 * 1501相关，也不同于日本的类似OSMS，后者对符合Barkhof标准的脑部病变呈阴性，而对纵向存在呈阴性携带DRB * 0405等位基因的广泛脊髓损伤。 OSMS是免疫遗传异质的。 DQB1 * 0602等位基因的缺失也可能与Barkhof脑部病变的缺失负相关。

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