Schneider P M
Institut für Rechtsmedizin, Johannes-Gutenberg-Universität, Mainz, FRG.
Complement Inflamm. 1990;7(4-6):218-24. doi: 10.1159/000463150.
One hundred and three individual DNA samples (including 23 families) were studied at the gene level during the reference typing of the fourth component of human complement at the VIth Complement Genetics Workshop in Mainz (1989). All samples were analyzed with the restriction enzyme Taq I and with two DNA probes recognizing the 5' ends of both C4 genes and the two adjacent 21-hydroxylase genes. This RFLP is informative for the number of C4 genes as well as for their respective gene size. We found a high degree of variation regarding the number of C4 genes, i.e. haplotypes with 1-3 structural C4 genes of 16 or 22 kb size. By correlating these haplotypes to the complotypes obtained by protein typing for C2, BF and C4, it became evident that only minor variation of the C4 gene structure within a given complotype is present.
在美因茨第六届补体遗传学研讨会（1989年）对人类补体第四成分进行参考分型期间，在基因水平上研究了103个个体DNA样本（包括23个家族）。所有样本都用限制性内切酶Taq I以及两种识别两个C4基因的5'端和两个相邻的21-羟化酶基因的DNA探针进行了分析。这种限制性片段长度多态性（RFLP）对于C4基因的数量及其各自的基因大小具有信息价值。我们发现C4基因数量存在高度变异，即具有1-3个大小为16或22 kb的结构C4基因的单倍型。通过将这些单倍型与通过对C2、BF和C4进行蛋白质分型获得的补体型相关联，很明显在给定的补体型内C4基因结构仅存在微小变异。
