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目的 探讨HLA基因型与多发性硬化 (MS)易患性的关系 ,以及临床表现与基因型的关系。方法 30例MS患者 (包括 2对双生子患者 )、40名健康对照组 ,应用序列特异性引物聚合酶链反应 (PCR SSP)方法进行HLA DRB1基因分型 ;对 2个双生子家系进行家系分析。结果 单卵双生子(经遗传标记确定 )同患MS ,病变均累及大脑、脑干和脊髓 ,基因型为HLA DRB1 0 9 1 4 1。异卵双生子之一为复发缓解型视神经脊髓炎 ,基因型为DRB1 0 1 1 2 ,其未患病双生子妹妹为DRB1 1 7 1 2。根据病变部位 ,30例MS中视神经脊髓炎型和西方型各 1 5例。脊髓 (70 0 % )和视神经 (56 7% )是最常见病变累及部位。DR1 5的等位基因频率在MS组无显著增高 ,但DR1 2等位基因频率在MS中显著升高 (1 0 /30vs 4/40 ,P =0 0 1 5 7) ,分层分析显示视神经脊髓炎患者中DR1 2等位基因频率升高 ,差异有极显著意义 (8/1 5vs4/40 ,P =0 0 0 1 9,RR =5 33)。结论 单卵双生子与异卵双生子的患病一致性差异表明 ,遗传因素在MS发病中起一定作用。DR1 2可能是部分视神经脊髓炎型MS的易患基因 ,关联基因的差异可能是东西方MS临床表现和病变部位不同的原因之一
Objective To explore the relationship between HLA genotypes and multiple sclerosis (MS) susceptibility, as well as the relationship between clinical manifestations and genotypes. Methods HLA-DRB1 genotyping was performed in 30 patients with MS (including 2 pairs of twins) and 40 healthy controls using sequence-specific primer polymerase chain reaction (PCR SSP). The pedigrees of 2 twins . Results Both monozygotic twins (identified by genetic markers) were associated with MS. The lesions involved the brain, brain stem and spinal cord. The genotype was HLA DRB1 0 9 1 4 1. One of the fraternal twins is recurrent remitting optic neuromyelitis, with a genotype of DRB1 0 1 1 2 and a non-affected twin sister DRB1 1 7 1 2. According to the lesion site, 30 cases of optic neuritis myelitis type and 15 cases of western type MS. Spinal cord (70 0%) and optic nerve (56 7%) were the most common sites of lesion involvement. The allele frequency of DR1 5 was not significantly increased in MS group, but the frequency of DR1 2 allele was significantly increased in MS (10/30 vs 4/40, P = 0 0 1 57). Stratified analysis showed that optic nerve The frequency of DR1 2 allele in patients with myelitis was significantly higher (8/1 5 vs 4/40, P = 0 0 01 9, RR = 5 33). Conclusions The differences in the concordance between monozygotic twins and fraternal tweens suggest that genetic factors play a role in the pathogenesis of MS. DR1 2 may be a susceptibility gene for some optic neuromyelitis MS, and the difference of related genes may be one of the reasons for the different clinical manifestation and lesion site of MS in east and west