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X连锁无丙种球蛋白血症患者B淋巴细胞中可变基因重排的过早终止

Premature termination of variable gene rearrangement in B lymphocytes from X-linked agammaglobulinemia.

作者信息

Schwaber J, Chen R H

机构信息

Children's Hospital-Boston, Massachusetts 02115.

出版信息

J Clin Invest. 1988 Jun;81(6):2004-9. doi: 10.1172/JCI113550.

DOI:10.1172/JCI113550
PMID:2838527
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC442655/
Abstract

X-linked agammaglobulinemia (XLA) results from failure of B lymphocyte development. Immature B cells from a patient with XLA were found to produce truncated mu and delta immunoglobulin H chains encoded by D-JH-C (mu delta). The 5' terminal sequence of cDNA encoding the H chains is composed of D-JH with the characteristic GGTTTGAAG/CACTGTG consensus sequence utilized for VH gene rearrangement upstream, and a leader sequence that serves for translation of this intermediate stage of rearrangement. Failure of variable region gene rearrangement may underlie the failure of B lymphoid development in XLA.

摘要

X连锁无丙种球蛋白血症（XLA）是由B淋巴细胞发育失败引起的。发现一名XLA患者的未成熟B细胞产生由D-JH-C（μδ）编码的截短的μ和δ免疫球蛋白H链。编码H链的cDNA的5'末端序列由D-JH组成，其上游具有用于VH基因重排的特征性GGTTTGAAG/CACTGTG共有序列，以及一个用于该重排中间阶段翻译的前导序列。可变区基因重排失败可能是XLA中B淋巴细胞发育失败的基础。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/71a7/442655/67642b3257fe/jcinvest00100-0363-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/71a7/442655/465884320181/jcinvest00100-0363-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/71a7/442655/67642b3257fe/jcinvest00100-0363-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/71a7/442655/465884320181/jcinvest00100-0363-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/71a7/442655/67642b3257fe/jcinvest00100-0363-b.jpg

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Premature termination of variable gene rearrangement in B lymphocytes from X-linked agammaglobulinemia.X连锁无丙种球蛋白血症患者B淋巴细胞中可变基因重排的过早终止
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本文引用的文献

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Human immunoglobulin D segments encoded in tandem multigenic families.串联多基因家族中编码的人类免疫球蛋白D区段。
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通过细胞融合纠正X连锁无丙种球蛋白血症患者B淋巴细胞中的分子缺陷。
J Clin Invest. 1988 Oct;82(4):1471-6. doi: 10.1172/JCI113754.
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J Exp Med. 1989 Jun 1;169(6):2109-19. doi: 10.1084/jem.169.6.2109.
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Germ line transcription of the immunoglobulin heavy chain locus directs production of mu chain without VDJ.免疫球蛋白重链基因座的种系转录指导无VDJ的μ链产生。
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An immunoglobulin heavy chain variable region gene is generated from three segments of DNA: VH, D and JH.免疫球蛋白重链可变区基因由三段DNA片段组成：VH、D和JH。
Cell. 1980 Apr;19(4):981-92. doi: 10.1016/0092-8674(80)90089-6.
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Improved method for cloning human B-cell lines.
Cell Immunol. 1982 Sep 15;72(2):219-30. doi: 10.1016/0008-8749(82)90470-1.
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Physical change in cytoplasmic messenger ribonucleoproteins in cells treated with inhibitors of mRNA transcription.用mRNA转录抑制剂处理的细胞中细胞质信使核糖核蛋白的物理变化。
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Epstein-Barr virus-induced lymphoblastoid cell lines derived from the peripheral blood of patients with X-linked agammaglobulinemia can secrete IgM.源自X连锁无丙种球蛋白血症患者外周血的爱泼斯坦-巴尔病毒诱导的淋巴母细胞系可分泌IgM。
J Clin Immunol. 1984 Mar;4(2):143-50. doi: 10.1007/BF00915048.
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The D-JH complex is an intermediate to the complete immunoglobulin heavy-chain V-region gene.D-JH复合体是完整免疫球蛋白重链V区基因的一个中间体。
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