Studies for gene on agammaglobulinemia B cells

对无丙种球蛋白血症B细胞进行了免疫学和遗传学研究。共同变量免疫缺陷(CVI)是一组异质性疾病。首先，用免疫球蛋白(Ig)探针和Southern杂交技术对患者生殖系DNA进行免疫球蛋白(Ig)基因结构的研究。患者的IgH基因未发现缺失和突变。其次，采用Northern印迹法检测患者淋巴细胞免疫球蛋白基因的表达。在大多数患者中，每一类Ig基因都不表达。但在部分患者中，C-Mu基因表达，而CGamma基因不表达。用EB病毒制备B细胞系。对患者B细胞系进行免疫球蛋白基因重排检测。在某些情况下，免疫球蛋白基因已经重排，而在另一些情况下，免疫球蛋白基因没有重排。此外，在一些常见的Variale免疫缺陷中还存在染色质结构的异常。Bloom综合征患者存在IgM缺陷。选择性IgA缺陷是由于免疫球蛋白重链基因的类转换异常所致。此外，c-myc基因在一些患者中有表达，而在另一些患者中不表达。从我们的结果可以看出，免疫缺陷(尤其是甲型或低丙种球蛋白血症)的发病机制存在异质性。

Immunological and genetical studies were carried out for agammaglobulinemia B cells.Common variable immunodeficiency (CVI) is a heterogeneous group of diseases. Firstly, structure of immunoglobulin (Ig) gene was investigated using Ig probe and Southern blot analysis for germ line DNA of patients. No deletion and mutation was found in patients' IgH gene. Secondary, expression of Ig gene was investigated using northern blot analysis for lymphocytes of patients. In most patients, each class of Ig gene was not expressed. However, in a part of patients, C mu gene was expressed, but Cgamma gene was not expressed. B cell lines were prepared by EB virus. Rearrangement of Ig gene was investigated for patients' B cell lines. In some cases, Ig genes have been rearranged, whereas in the other cases Ig genes have not been rearranged. Moreover, there are abnormal chromatin structures in some common variale immunodeficiency.Bloom syndrome patients have IgM deficiency. This was due to abnormal splicing in mu chain gene expression.Selective IgA deficiency was due to abnormal class switching in immunoglobulin heavy chain genes.Moreover, c-myc gene was expressed in some patients, but not in the other patients.From our results, it became clear that there is heterogeneity in the pathogenesis of immunodeficiency (especially, a- or hypo-gammaglobulinemia).