Studies for gene on agammaglobulinemia B cells

无丙种球蛋白血症B细胞基因的研究

基本信息

批准号：
03670488
负责人：
KONDO Naomi
金额：
$ 1.15万
依托单位：
Gifu University
依托单位国家：
日本
项目类别：
Grant-in-Aid for General Scientific Research (C)
财政年份：
1991
资助国家：
日本
起止时间：
1991 至 1992
项目状态：
已结题

来源：
https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-03670488/
关键词：
Common variable immunodeficiency Bloom syndrome Immunoglobulin gene Class switching B cell differentiation C-myc gene Common variable immunodeficietncy Bloom症侯群 C-myc遺伝子無(低)ガンマグロブリン血症遺伝子発現刺激伝達機構 B細胞 RNAスプライス

项目摘要

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).

对Agammagloblobloblobia b细胞进行了免疫学和遗传研究。常见的可变免疫缺陷（CVI）是一组异质性疾病。首先，使用IG探针和Southern印迹分析对患者的生殖线DNA进行了免疫球蛋白（IG）基因的结构。在患者的IGH基因中未发现缺失和突变。使用Northern印迹分析对患者淋巴细胞进行了次要的Ig基因表达。在大多数患者中，未表达每类Ig基因。然而，在一部分患者中，表达了c Mu基因，但未表达Cgamma基因。通过EB病毒制备B细胞系。研究了患者B细胞系的Ig基因的重排。在某些情况下，IG基因已被重新排列，而在其他情况下，IG基因尚未重新排列。此外，在某些常见变异免疫缺陷中存在异常的染色质结构。布鲁姆综合征患者患有IgM缺乏。这是由于MU链基因表达中的剪接异常。选择性IgA缺乏症是由于免疫球蛋白重链链基因的异常类别转换引起的。此外，在某些患者中不表达C-MYC基因，但在其他患者中没有表达。从我们的结果中，很明显，显然是免疫症状的，尤其是无效的症状（尤其是Andobiaiia）。