重症肌无力家系图.docVIP

家族性重症肌无力患者的临床及遗传学研究 中国神经免疫学和神经病学杂志 1999年第2期第6卷 论著 作者：卜碧涛　杨明山　徐金枝　高波廷　龚非力*　姜晓丹*　聂晓波* 单位：同济医科大学附属同济医院神经科，武汉 430030 　　关键词: 重症肌无力；Mendel常染色体遗传；人类白细胞抗原；家系分析 　　摘要　目的　研究家族性重症肌无力(MG)患者的临床和免疫学特征与非家族性患者的异同，并分析家系患者的遗传学特性，试图解释家族发病的机制。方法　对诊治112例家族性重症肌无力的临床特征、免疫学特征及HLA-Ⅱ、类抗原基因分型进行了研究及家系分析。结果　本组患者的临床及免疫学特征与散发性病例基本相同，其遗传方式基本符合Mendel常染色体遗传，可能为显型或隐性遗传，其中2个家系呈典型显型遗传。HLA基因分型发现补体C4A*4、补体型S42及DRB1等位基因中的0901和1301两对等位基因与MG相关。结论　遗传缺陷与环境因素相互作用导致了重症肌无力。 　　中图号　R746.1　R354　R392.11　R446.62 Clinical and Genetic Studies in 112 Patients with Familial Myasthenia Gravis Bu Bitao　Yang Mingshan　Xu Jinzhi　Gao Boting　Gong Feili, et al 　　(Department of Neurology, Tongji Hospital, Tongji Medical University， 　　Tongji Medical University, Wuhan 430030) 　　Objective 　Myasthenia gravis (MG) is an autoimmune disorder in which the antibodies act on the nicotinic acetylcholine receptors at the endplate of muscles. The familial cases with MG account for less than 5% of MG patients. The clinical and immunological features and the hereditary patterns of familial cases have been studied and compared with sporadic cases in order to explore the pathogenesis of MG. Methods　 One-hundred-and-twelve cases with familial myasthenia gravis (MG) from 44 families, out of 2100 patients with MG have been studied clinically and immunologically. The pedigree analysis has been employed to confirm the inheritance trait of these cases. The HLA-genotyping have been determinated in patients and their family members to establish any relations to MG. Resultes　 The clinical pictures and immunological features were similar to those of sporadic cases. The hereditary pattern of familial patients was basically Mendelian autosomal inheritance. Many predisposing factors such as fever, infection, administrations of aminoglycosides or vaccines played important roles in presenting the phenotype of subclinical cases. The complement polymorphism C4A*4, the complotype S42, and the genes 0901 and 1301 of DRB1 allele, were related to the pathogenesis of M