Beutler E, West C
The Scripps Research Institute, Department of Molecular and Experimental Medicine, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA.
Blood Cells Mol Dis. 1997 Aug;23(2):219-29. doi: 10.1006/bcmd.1997.0139.
Diallelic polymorphisms have been identified in the HLA-H gene and the ZNF192 gene located about 2 megabases centromeric to HLA-H. The three polymorphic sites in HLA-H together with the two hemochromatosis mutations in this gene give rise to 8 different haplotypes. The three polymorphic sites in ZNF192 give rise to 4 different haplotypes. The haplotypes in HLA-H are in complete linkage disequilibrium with the two common mutations in that gene, 845A (C282Y) and 187G (H63D). The 845A mutation is in weak linkage disequilibrium with the ZNF192 polymorphisms and the 187G mutation appears to be in equilibrium with this polymorphism. The 187G mutation therefore appears to be the older of the two HLA-H mutations.
已在HLA - H基因以及位于HLA - H着丝粒约2兆碱基处的ZNF192基因中鉴定出双等位基因多态性。HLA - H中的三个多态性位点与该基因中的两个血色素沉着症突变一起产生了8种不同的单倍型。ZNF192中的三个多态性位点产生了4种不同的单倍型。HLA - H中的单倍型与该基因中的两个常见突变845A(C282Y)和187G(H63D)完全连锁不平衡。845A突变与ZNF192多态性呈弱连锁不平衡,而187G突变似乎与该多态性处于平衡状态。因此,187G突变似乎是HLA - H的两个突变中较古老的一个。