摘要
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 。
Objective To investigate the polymorphism of the HLA DRB1 gene in patients with MS,as to explaining the differences of clincal features and pathology between Caucasian and Asian Methods Thirty patients with MS including 2 twin families and 40 normal controls were studied by genotype of HLA DRB1 using PCR SSP Results Monozygotic twins identified by microsatellite markers were affected in spinal cord,brain and pons The genotype of them was HLA DRB1*09*14 1 One of the dizygotic pair whose genotype was HLA DRB1*01*12 was a patient with neuromyelitis optica while her normal sister was HLA DRB1*17*12 The ratio of case number of Western type MS and Asian type was 1∶1,and no difference existed in age at onset,duration and gender between two types It’s different from Caucasian that the most involved locations were spinal cord (this study 70 0%) and optical nerve (56 7%) The frequency of HLA DR15 in MS was higher than in controls (13/30 vs 10/40),but not significant (χ 2=2 611 8, P =0 106 1),however,the DR12 allele was strongly associated with optico spinal type (8/15 vs 4/40, RR =5 33,χ 2=9 603 0, P =0 001 9),but not associated with Western MS Conclusion The difference of concordance between monozygotic and dizygotic twins suggested that the susceptibility of MS was affected by genetic factors Association between HLA DR12 and optico spinal type MS in northern Chinese was suggested,which may be one of the genetic causes of the differences in manifestation and pathology
出处
《中华神经科杂志》
CAS
CSCD
北大核心
2003年第1期21-24,共4页
Chinese Journal of Neurology
