Fu S M, Stern R, Kunkel H G, Dupont B, Hansen J A, Day N K, Good R A, Jersild C, Fotino M
J Exp Med. 1975 Aug 1;142(2):495-506. doi: 10.1084/jem.142.2.495.
Four families with C2 deficiency were studied. Among eight HL-A haplotypes involved with C2 deficiency, five were HL-A 10,W18. Three homozygotes for C2 deficiency from different families were mutually nonreactive in mixed lymphocyte cultures (MLC) and the heterozygotes from the fourth family failed to react to the homozygous cells. It appeared that identical MLC determinants were associated with all the genes from the different families that related to C2 deficiency. Further experiments identified the MLC determinant, LD-7a, as being involved. These results suggest marked linkage disequilibrium between the genes for C2 deficiency and the major histocompatibility complex (MHC). Studies of possible recombinants have offered tentative evidence for the positioning of the locus for C2 deficiency with respect to other segments of the MHC.
对四个C2缺陷家庭进行了研究。在与C2缺陷相关的八个HL - A单倍型中,有五个是HL - A 10、W18。来自不同家庭的三名C2缺陷纯合子在混合淋巴细胞培养(MLC)中相互无反应,而来自第四个家庭的杂合子对纯合细胞无反应。似乎与不同家庭中所有与C2缺陷相关的基因都有关联的相同MLC决定簇。进一步的实验确定涉及的MLC决定簇为LD - 7a。这些结果表明C2缺陷基因与主要组织相容性复合体(MHC)之间存在明显的连锁不平衡。对可能的重组体的研究为C2缺陷基因座相对于MHC其他区段的定位提供了初步证据。