Tokunaga K, Dewald G, Omoto K, Juji T
Am J Hum Genet. 1986 Sep;39(3):414-9.
Genetic polymorphisms of the sixth and seventh complement components (C6 and C7) have been studied in Japanese family material using polyacrylamide gel isoelectric focusing followed by immunoblotting. Three common and four rare alleles were observed at the locus for C6. Inheritance of the two rare C6 variants, M11 and B3, was first confirmed. Three common C7 allotypes were classified as C7 1, C7 2, and C7 4, respectively. Linkage analysis confirmed the close linkage between the loci for C6 and C7. The maximum lod score was 8.43 at phi = 0 (95% confidence limits: phi = 0 and phi = .07). No significant linkage disequilibrium was found between C6 and C7 in directly determined haplotypes of unrelated parents.
利用聚丙烯酰胺凝胶等电聚焦及免疫印迹技术,对日本家系材料中的第六和第七补体成分(C6和C7)的基因多态性进行了研究。在C6位点观察到三个常见等位基因和四个罕见等位基因。首次证实了两种罕见C6变体M11和B3的遗传方式。三种常见的C7同种异型分别被分类为C7 1、C7 2和C7 4。连锁分析证实了C6和C7位点之间的紧密连锁。在φ=0时,最大lod分数为8.43(95%置信限:φ=0和φ=0.07)。在无关父母的直接确定单倍型中,未发现C6和C7之间存在显著的连锁不平衡。