意大利人中与重症肌无力相关的某些TCR和HLA基因的发病率增加。
Increased incidence of certain TCR and HLA genes associated with myasthenia gravis in Italians.
作者信息
Mantegazza R, Oksenberg J R, Baggi F, Antozzi C, Illeni M T, Pellegris G, Cornelio F, Steinman L
机构信息
Department of Neurology and Neurological Sciences, Stanford University, CA 94305.
出版信息
J Autoimmun. 1990 Aug;3(4):431-40. doi: 10.1016/s0896-8411(05)80010-1.
In order to study the immunogenetics of myasthenia gravis (MG), we analysed the TCR and HLA-class II genes from Italian and Californian myasthenic patients. We investigated polymorphisms of the TCR using the full length cDNA probes pGA5 and the pT10 for the alpha and beta chains, respectively. The 6.3 kb and 2.0 kb polymorphic markers, revealed by the PssI enzyme and the alpha chain probe, were shown to be significantly associated with MG. Italian MG patients were HLA typed, and allele frequencies showed a significant association of DR3 and DQw2 with MG. The relative risk calculated for DR3 was 7.4. T-cell proliferative responses to peptides of the AchR alpha chain were also studied and no associations with TCR RFLP analysis or HLA-class II typing were observed.
为了研究重症肌无力（MG）的免疫遗传学，我们分析了来自意大利和加利福尼亚的重症肌无力患者的T细胞受体（TCR）和HLA - II类基因。我们分别使用全长cDNA探针pGA5和pT10来研究TCRα链和β链的多态性。由PssI酶和α链探针揭示的6.3kb和2.0kb多态性标记显示与MG显著相关。对意大利MG患者进行了HLA分型，等位基因频率显示DR3和DQw2与MG显著相关。计算出的DR3相对风险为7.4。还研究了T细胞对乙酰胆碱受体（AchR）α链肽的增殖反应，未观察到与TCR限制性片段长度多态性（RFLP）分析或HLA - II类分型的关联。
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