重症肌无力家系图

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1、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、Ⅲ类抗原基因

2、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　R446.62ClinicalandGeneticStudiesin112PatientswithFamilialMyast

3、heniaGravisBuBitao　YangMingshan　XuJinzhi　GaoBoting　GongFeili,etal　　(DepartmentofNeurology,TongjiHospital,TongjiMedicalUniversity，　　TongjiMedicalUniversity,Wuhan430030)　　Objective　Myastheniagravis(MG)isanautoimmunedisorderinwhichtheantibodiesactonthenicoti

4、nicacetylcholinereceptorsattheendplateofmuscles.ThefamilialcaseswithMGaccountforlessthan5%ofMGpatients.TheclinicalandimmunologicalfeaturesandthehereditarypatternsoffamilialcaseshavebeenstudiedandcomparedwithsporadiccasesinordertoexplorethepathogenesisofMG

5、.Methods　One-hundred-and-twelvecaseswithfamilialmyastheniagravis(MG)from44families,outof2100patientswithMGhavebeenstudiedclinicallyandimmunologically.Thepedigreeanalysishasbeenemployedtoconfirmtheinheritancetraitofthesecases.TheHLA-genotypinghavebeendeter

6、minatedinpatientsandtheirfamilymemberstoestablishanyrelationstoMG.Resultes　Theclinicalpicturesandimmunologicalfeaturesweresimilartothoseofsporadiccases.ThehereditarypatternoffamilialpatientswasbasicallyMendelianautosomalinheritance.Manypredisposingfactors

7、suchasfever,infection,administrationsofaminoglycosidesorvaccinesplayedimportantrolesinpresentingthephenotypeofsubclinicalcases.ThecomplementpolymorphismC4A*4,thecomplotypeS42,andthegenes0901and1301ofDRB1allele,wererelatedtothepathogenesisofMG.Conclusion　T

8、hephenotypeofMGmightbetheresultsofinteractionofhereditarydefectsandenvironmentalfactors.　　Keywords　myastheniagravis;Mendelianautosomalinheritance;HLA-genotyping;pedigreeanalysis　　重症肌无力(MG)是一种针对骨骼肌烟碱型乙酰胆碱受体(AChR)的自身免