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。常见变异型免疫缺陷病（CVI）是一组异质性疾病。首先，利用IG探针和Southern印迹杂交技术对患者生殖细胞系DNA进行了免疫球蛋白（IG）基因结构分析。未发现IgH基因缺失和突变。其次，采用北方印迹分析患者淋巴细胞的IG基因表达。大部分患者的各类IG基因均不表达。但部分患者Cmu基因表达，Cgamma基因不表达。通过EB病毒制备B细胞系。对患者的B细胞系进行了IG基因重排研究。在某些情况下，IG基因已经重排，而在其他情况下，IG基因没有重排。此外，在一些常见的免疫缺陷病中也存在染色质结构异常，Bloom综合征患者存在IgM缺陷。结果表明，免疫缺陷症（尤其是α-或低丙种球蛋白血症）的发病机制存在异质性，免疫球蛋白重链基因的类别转换异常是IgA缺乏的主要原因，c-myc基因在某些患者中表达，而在另一些患者中不表达。

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).