Hobart M J
Philos Trans R Soc Lond B Biol Sci. 1984 Sep 6;306(1129):325-31. doi: 10.1098/rstb.1984.0093.
Both charge and size-dependent electrophoretic techniques have been used to investigate genetic polymorphisms of complement proteins. Of the seventeen complement proteins, ten have been shown to have genetic variants and only one (C9) has been extensively investigated without revealing variants. These investigations give information on the numbers of cistrons and their linkage relations. They demonstrate or confirm the linkage of C2, Factor B and C4 to the MHC. In the cases of both human and mouse C4, it has been shown that the loci are (usually) duplicated. C4 in humans is extremely polymorphic and exhibits a number of strong allelically associated haplotypes. Some of these have only one expressed C4 gene and are associated with disease susceptibility. C8 has at least two cistrons coding for associating subunits. C6 and C7 are linked in several species and sometimes C7 is duplicated. This gene pair is discussed in relation to natural selection and gene conversion.
电荷依赖和大小依赖的电泳技术都已被用于研究补体蛋白的遗传多态性。在17种补体蛋白中，有10种已被证明存在遗传变异，只有一种（C9）经过广泛研究未发现变异。这些研究提供了关于顺反子数量及其连锁关系的信息。它们证明或确认了C2、B因子和C4与主要组织相容性复合体（MHC）的连锁。在人类和小鼠C4的案例中，已表明这些基因座（通常）是重复的。人类的C4具有极高的多态性，并表现出许多强等位基因相关的单倍型。其中一些只有一个表达的C4基因，并且与疾病易感性相关。C8至少有两个编码缔合亚基的顺反子。C6和C7在几个物种中是连锁的，有时C7是重复的。这一对基因将结合自然选择和基因转换进行讨论。
