Kido A, Kimura Y, Nishizono T, Oya M, Shiozawa Z
Department of Legal Medicine, Yamanashi Medical University, Japan.
Gene Geogr. 1994 Dec;8(3):165-8.
Polymorphism of factor H (HF) was investigated in 1060 unrelated Japanese individuals using isoelectric focusing and immunoblotting. Besides 6 different HF types a null type and an unusual type were observed. The family analysis suggested the hereditary occurrence of a new variant allele HFC. The population data fitted the Hardy-Weinberg equilibrium, assuming that the null allele HFQO occurs commonly. The allele frequencies were HFA = 0.407 +/- 0.011, HFB = 0.491 +/- 0.011, HFA1 = 0.011 +/- 0.002 and HFQO = 0.091 +/- 0.006. The HF polymorphism in Japanese was shown to be controlled by the above 4 common alleles.
采用等电聚焦和免疫印迹法，对1060名无血缘关系的日本个体进行了补体因子H（HF）多态性研究。除了6种不同的HF类型外，还观察到一种无效类型和一种异常类型。家系分析表明存在一种新的变异等位基因HFC的遗传现象。假设无效等位基因HFQO普遍存在，群体数据符合哈迪-温伯格平衡。等位基因频率分别为：HFA = 0.407 ± 0.011，HFB = 0.491 ± 0.011，HFA1 = 0.011 ± 0.002，HFQO = 0.091 ± 0.006。结果显示，日本人的HF多态性由上述4个常见等位基因控制。
