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目的探讨中国北方地区家族性重症肌无力(myastheniagravis,MG)与HLA-DQB1等位基因多态性的相互关系。方法应用聚合酶链反应-序列特异性引物方法对中国北方地区15例家族性MG、49例散发性MG和51名健康对照组的HLA-DQB1基因多态性进行分析。结果在家族性MG中DQB1*0501等位基因频率明显高于散发MG(P<0.05,OR=3.08)和对照(P=0.001,OR=4.439),尤其是眼型患者更加显著有统计学意义(P<0.01,OR=7.67)。结论DQB1*0501等位基因是家族性MG尤其是眼型患者的易感基因;遗传因素与重症肌无力发生密切相关。家族性MG有其独特的临床特点。
Objective To investigate the relationship between familial myasthenia gravis (MG) and HLA-DQB1 alleles in northern China. Methods Polymorphisms of HLA-DQB1 gene in 15 cases of familial MG, 49 cases of sporadic MG and 51 healthy controls in northern China were analyzed by polymerase chain reaction-sequence-specific primers. Results The frequencies of allele DQB1 * 0501 in familial MG were significantly higher than those in sporadic MG (P <0.05, OR = 3.08) and control (P = 0.001, OR = 4.439) (P <0.01, OR = 7.67). Conclusion The allele DQB1 * 0501 is a susceptible gene in familial MG, especially in ocular patients. The genetic factors are closely related to the occurrence of myasthenia gravis. Familial MG has its own unique clinical features.