人类补体第四成分的遗传多态性：方法学方面以及与其在HLA区域定位相关的连锁和关联数据介绍。
The genetic polymorphism of the fourth component of human complement: methodological aspects and a presentation of linkage and association data relevant to its localization in the HLA region.
作者信息
Teisberg P, Olaisen B, Jonassen R, Gedde-Dahl T, Thorsby E
出版信息
J Exp Med. 1977 Nov 1;146(5):1380-9. doi: 10.1084/jem.146.5.1380.
Abstract
The C4 polymorphism in man has been studied by immunofixation electrophoresis, crossed immunoelectrophoresis, and functional detection after agarose gel electrophoresis. It has so far not been possible to reveal this polymorphism by isoelectric focusing and functional detection of C4 bands. Three common alleles and one less frequently occuring allele have been identified. In a small population sample studied by all the different techniques and verified by family segregation, the following gene frequencies have been found: C4F: 0.46, C4S: 0.32, C4F1: 0.20, and C4M: 0.02. By linkage and association studies in a family material it has been shown that a structural C4 locus is situated in the HLA region of chromosome 6 very close to the HLA-B and Bf loci.
摘要
已通过免疫固定电泳、交叉免疫电泳以及琼脂糖凝胶电泳后的功能检测对人类的C4多态性进行了研究。到目前为止，通过等电聚焦和C4条带的功能检测还无法揭示这种多态性。已鉴定出三个常见等位基因和一个较少出现的等位基因。在通过所有不同技术研究并经家系分离验证的一个小群体样本中，发现了以下基因频率：C4F：0.46，C4S：0.32，C4F1：0.20，C4M：0.02。通过对一个家系材料进行连锁和关联研究表明，一个结构性C4基因座位于6号染色体的HLA区域，非常靠近HLA - B和Bf基因座。
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The genetic polymorphism of the fourth component of human complement: methodological aspects and a presentation of linkage and association data relevant to its localization in the HLA region.人类补体第四成分的遗传多态性：方法学方面以及与其在HLA区域定位相关的连锁和关联数据介绍。
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2
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3
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5
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