Ba. Fernie et al., COMPLEMENT C6 AND C7 DNA POLYMORPHISMS ANALYZED BY PCR IN 7 ETHNIC-GROUPS AND CHARACTERIZATION OF THE C6 MSPI RFLP, Experimental and clinical immunogenetics, 13(2), 1996, pp. 92-103
Five polymorphisms in the C6 and C7 genes have been investigated in se
ven ethnic groups, The allele frequencies are broadly similar in most
groups except C7 M/N which is monomorphic in our group of Africans, aa
d C6 MspI and C7 S367T where the allele frequencies in African and Cap
e Coloured subjects are very different from the other ethnic groups. T
here is very little allelic association except between C6 A/B and C6 M
spI, Seventeen of the 32 possible haplotypes have been observed, sugge
sting that much recombination has taken place. We describe a new metho
d for the investigation of the MspI RFLP located in intron 3 of C6 (ap
proximately 3 kbp 3' from exon 3 and 1.5 kbp 5' from exon 4) and its m
olecular basis, together with an improved method for the isolation of
DNA from stored serum.