Inherited structural polymorphism of the fourth component of human complement.
Inherited structural polymorphism of the fourth component of human complement.
复制标题
人类补体第四成分的遗传结构多态性。
DOI：
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发表时间：
1980
影响因子：
11.1
通讯作者：
C. Alper
中科院分区：
文献类型：
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作者：
Z. Awdeh;C. Alper
经神经氨酸酶处理的血浆琼脂糖凝胶电泳法发现人类补体第四组分(C4)具有高度的多态性。该系统允许清晰地分离两个C4基因座的产物，C4a(酸性或罗杰斯)和C4b(碱性或Chido)。C4a基因座至少有6个结构变异体和1个缺失等位基因，C4b基因座至少有2个结构变异体和1个缺失等位基因。在两个C4基因座之间发现了没有交叉的紧密连锁，允许定义C4AB单倍型，以及在C4单倍型与人类组织相容性复合体的C2和BF基因座之间。发现了9种C4单倍型，每种单倍型在高加索人中的频率都在0.005或更高。这些研究为人类C4在6号染色体短臂上的主要组织相容性复合体中存在两个截然不同但紧密相连的遗传位点提供了直接证据。
Human fourth component of complement (C4) was found to be highly polymorphic by agarose gel electrophoresis of neuraminidase-treated plasma. The system allows clear-cut separation of the products of the two C4 genetic loci, C4A (acidic or Rodgers) and C4B (basic or Chido). There are at least six structural variants and a deletion allele at the C4A locus and two structural variants and a deletion allele at the C4B locus. Close linkage with no crossovers was found between the two C4 loci, allowing the definition of C4AB haplotypes, and between C4 haplotypes and the C2 and BF loci of the human histocompatibility complex. Nine C4 haplotypes, each with a frequency of 0.005 or more in Caucasians, were found. These studies provide direct evidence for two distinct but closely linked genetic loci for human C4 in the major histocompatibility complex on the short arm of chromosome 6.