Rodriguez de Cordoba S, Dykman T R, Ginsberg-Fellner F, Ercilla G, Aqua M, Atkinson J P, Rubinstein P
Proc Natl Acad Sci U S A. 1984 Dec;81(24):7890-2. doi: 10.1073/pnas.81.24.7890.
Three pedigrees informative for the segregation of genetic variants of the binding protein for the fourth component of complement (C4BP) and C3b/C4b receptor (C3bR) have been identified. There were 10 informative meioses with no recombinants, indicating a close linkage between the loci encoding C4BP and C3bR, C4BP and C3bR [maximum lod (logarithm of odds of linkage) score: 2.4 at recombinant fraction = 0.0]. In addition, in the four unrelated individuals who were doubly heterozygous (C4BP1, C4BP2, C3bRA, C3bRB), the infrequent allele C4BP2 segregated together with the uncommon allele C3bRB, supporting the hypothesis of linkage between C4BP and C3bR and suggesting that linkage disequilibrium exists between these particular alleles. We conclude that the loci encoding C3bR and C4BP, two functionally related molecules, are linked.
已鉴定出三个家系，这些家系对于补体第四成分结合蛋白（C4BP）和C3b/C4b受体（C3bR）的遗传变异分离具有信息价值。有10次信息性减数分裂且无重组，表明编码C4BP和C3bR的基因座之间存在紧密连锁，C4BP和C3bR [最大连锁对数（lod）得分：重组率 = 0.0时为2.4]。此外，在四个双杂合（C4BP1、C4BP2、C3bRA、C3bRB）的无关个体中，罕见等位基因C4BP2与罕见等位基因C3bRB一起分离，支持C4BP和C3bR之间连锁的假设，并表明这些特定等位基因之间存在连锁不平衡。我们得出结论，编码C3bR和C4BP这两个功能相关分子的基因座是连锁的。
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