C4 DNA RFLP reference typing report

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.