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Hypomorphic C4B∗ 15 variant of the fourth component of complement
[摘要]

We report a rare ‘hypomorphic’ C4 allotype detected during routine screening in controls for the Rogers:1 epitope. C4B15 was distinguished by having only faint staining when using polyclonal anti-C4 antibody on agarose inimunoelectrophoresis (e.g. hypomorphic), having relatively weak hemolytic activity but being strongly reactive with monoclonal antibody to Rodgers 1. TaqI restriction fragment length polymorphism (RFLP) demonstrated that C4B 15 segregated with 7 kb and 5.4 kb C4 gene fragments and with the haplotype HLA-A2,C-, B50,BW6,DR7,DQ2,DR52,S07C2(1,15). The 5.4-kb fragment was more intense than the 7.0-kb fragment, suggesting duplication of the 5.4-kb fragment. This hypomorphic C4 allotype (genotype frequency = 0.0088) has diminished expression of C4 epitopes commonly recognized by polyclonal anti-C4 and may be missed by standard phenotyping methods.

[发布日期]  [发布机构] 
[效力级别]  [学科分类] 生物化学/生物物理
[关键词] C4 allotype;Complement;Polymorphism;Restriction fragment length polymorphism;Immunogenetics [时效性] 
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