Fernie B A, Finlay A, Price D, Chan E, Orren A, Joysey V C, Joysey K A, Hobart M J
Molecular Immunopathology Unit, University of Cambridge, Addenbrookes NHS Trust, UK.
Exp Clin Immunogenet. 1996;13(2):92-103.
Five polymorphisms in the C6 and C7 genes have been investigated in seven ethnic groups. The allele frequencies are broadly similar in most groups except C7 M/N which is monomorphic in our group of Africans, and C6 MspI and C7 S367T where the allele frequencies in African and Cape Coloured subjects are very different from the other ethnic groups. There is very little allelic association except between C6 A/B and C6 MspI. Seventeen of the 32 possible haplotypes have been observed, suggesting that much recombination has taken place. We describe a new method for the investigation of the MspI RFLP located in intron 3 of C6 (approximately 3 kbp 3' from exon 3 and 1.5 kbp 5' from exon 4) and its molecular basis, together with an improved method for the isolation of DNA from stored serum.
已在七个种族群体中研究了C6和C7基因中的五个多态性。除了C7 M/N（在我们的非洲人群体中为单态性）、C6 MspI以及C7 S367T（非洲人和开普有色人种受试者中的等位基因频率与其他种族群体非常不同）外，大多数群体中的等位基因频率大致相似。除了C6 A/B和C6 MspI之间外，几乎没有等位基因关联。已观察到32种可能单倍型中的17种，这表明发生了大量重组。我们描述了一种研究位于C6基因第3内含子（外显子3下游约3 kbp且外显子4上游1.5 kbp）的MspI限制性片段长度多态性（RFLP）的新方法及其分子基础，以及一种从储存血清中分离DNA的改进方法。
