Benger J C, Cox D W
Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada.
Am J Hum Genet. 1989 Oct;45(4):606-14.
Polymorphisms have previously been reported for the C mu, C alpha, C epsilon, and C gamma genes of the immunoglobulin heavy-chain (IGH) gene cluster. Here we report polymorphisms of the IGH C delta gene region, observed using the enzymes ApaI, AvaII, TaqI, and XbaI. The TaqI and XbaI polymorphisms were used in an investigation of linkage disequilibrium throughout the cluster of constant-region genes. The TaqI polymorphism, located 5' to the C delta gene, is in linkage disequilibrium with a polymorphism of the C mu switch region. The XbaI polymorphism, which is in the vicinity of the C delta 2 exon, is not strongly associated with any other polymorphisms, including the TaqI polymorphism and the Gm polymorphism of C gamma 3. Although there is a high degree of association between most genes of the IGH region, there is a lack of association between C delta and C gamma 3, which may indicate a hot spot for recombination.
此前已有关于免疫球蛋白重链(IGH)基因簇的Cμ、Cα、Cε和Cγ基因多态性的报道。在此,我们报告使用ApaI、AvaII、TaqI和XbaI酶观察到的IGH Cδ基因区域的多态性。TaqI和XbaI多态性用于研究整个恒定区基因簇中的连锁不平衡。位于Cδ基因5'端的TaqI多态性与Cμ转换区的多态性存在连锁不平衡。位于Cδ2外显子附近的XbaI多态性与任何其他多态性均无强关联,包括TaqI多态性和Cγ3的Gm多态性。尽管IGH区域的大多数基因之间存在高度关联,但Cδ和Cγ3之间缺乏关联,这可能表明存在一个重组热点。