人类红细胞中C3b/C4b受体（CR1）的定量变化受补体激活调节因子（RCA）基因簇内的基因控制。
Quantitative variations of the C3b/C4b receptor (CR1) in human erythrocytes are controlled by genes within the regulator of complement activation (RCA) gene cluster.
作者信息
Rodriguez de Cordoba S, Rubinstein P
出版信息
J Exp Med. 1986 Oct 1;164(4):1274-83. doi: 10.1084/jem.164.4.1274.
Abstract
The genetic relationships of quantitative and structural variations of the C3b/C4b receptor (CR1) in human erythrocytes have been analyzed in informative families. Our results demonstrate the existence of multiple discrete quantitative variations of CR1 controlled by a locus, C3bRQ, closely linked to the CR1 structural locus, C3bR. Since the amounts of CR1 produced by each C3bR allele are shown to be independently regulated, we propose that a cis-acting genetic mechanism controls the level of expression of the C3bR alleles, and that this quantitative control plays a major, if not the sole, role in determining the total amounts of CR1 on normal human erythrocytes.
摘要
在信息丰富的家系中分析了人类红细胞中C3b/C4b受体（CR1）的数量和结构变异的遗传关系。我们的结果表明，存在由一个与CR1结构基因座C3bR紧密连锁的基因座C3bRQ控制的多个离散的CR1数量变异。由于每个C3bR等位基因产生的CR1量显示是独立调节的，我们提出一种顺式作用遗传机制控制C3bR等位基因的表达水平，并且这种数量控制在决定正常人类红细胞上CR1的总量中起主要作用（如果不是唯一作用的话）。
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Polymorphism of the human C3b/C4b receptor. Identification of a third allele and analysis of receptor phenotypes in families and patients with systemic lupus erythematosus.人类C3b/C4b受体的多态性。系统性红斑狼疮患者及其家系中第三种等位基因的鉴定与受体表型分析。
J Exp Med. 1984 Mar 1;159(3):691-703. doi: 10.1084/jem.159.3.691.
10
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J Clin Invest. 1983 Aug;72(2):685-93. doi: 10.1172/JCI111018.
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