Evidence for linkage between the loci coding for the binding protein for the fourth component of human complement (C4BP) and for the C3b/C4b receptor.
Evidence for linkage between the loci coding for the binding protein for the fourth component of human complement (C4BP) and for the C3b/C4b receptor.
复制标题
编码人类补体第四成分 (C4BP) 结合蛋白和 C3b/C4b 受体结合蛋白的基因座之间存在关联的证据。
DOI：
10.1073/pnas.81.24.7890
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发表时间：
1984
影响因子：
11.1
通讯作者：
Rubinstein,P
中科院分区：
文献类型：
--
作者：
RodriguezdeCordoba,S;Dykman,TR;Ginsberg-Fellner,F;Ercilla,G;Aqua,M;Atkinson,JP;Rubinstein,P
已经鉴定了三个家系，其为补体第四组分（C4 BP）和C3 b/C4 b受体（C3 bR）的结合蛋白的遗传变体的分离提供了信息。有10个信息性减数分裂，没有重组体，表明编码C4 BP和C3 bR，C4 BP和C3 bR的基因座之间的紧密连锁[最大lod（连锁几率的对数）评分：2.4，重组分数= 0.0]。此外，在4个无关的双杂合子个体（C4 BP *1，C4 BP *2，C3 bR *A，C3 bR *B）中，罕见等位基因C4 BP *2与罕见等位基因C3 bR *B一起分离，支持C4 BP与C3 bR连锁的假说，并提示这些特殊等位基因之间存在连锁不平衡。我们的结论是，基因座编码C3 bR和C4 BP，两个功能相关的分子，连接。
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 (C4BP*1, C4BP*2, C3bR*A, C3bR*B), the infrequent allele C4BP*2 segregated together with the uncommon allele C3bR*B, 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.