日本人群中TAPASIN的多态性及其与HLA II类基因的连锁不平衡

Polymorphism of TAPASIN and its linkage disequilibria with HLA class II genes in the Japanese population.

作者信息

Furukawa H, Kashiwase K, Yabe T, Ishikawa Y, Akaza T, Tadokoro K, Tohma S, Inoue T, Tokunaga K, Yamamoto K, Juji T

机构信息

Department of Research, Japanese Red Cross Central Blood Center, Tokyo, Japan.

出版信息

Tissue Antigens. 1998 Sep;52(3):279-81. doi: 10.1111/j.1399-0039.1998.tb03044.x.

DOI:10.1111/j.1399-0039.1998.tb03044.x

PMID:9802609

Abstract

Tapasin plays an important role in HLA class I assembly. The gene has been mapped on the human MHC region. We identified two alleles of TAPASIN in the Japanese population and analyzed the association of the alleles with HLA-DPB1, -DQB1 and -DRB1 alleles. The allele frequencies of TAPASIN01 and 02 were estimated to be 0.37 and 0.63, respectively, in the Japanese population. TAPASIN showed strong linkage disequilibrium with the HLA-DPB1 locus. Several frequent four-locus haplotypes were identified, including DRB10901-DQB10303-DPB10501-TAPASIN02, DRB10901-DQB10303-DPB10201-TAPASIN02 and DRB11302-DQB10604-DPB10401-TAPASIN02.

摘要

塔帕辛在HLA I类分子组装中起重要作用。该基因已定位在人类主要组织相容性复合体（MHC）区域。我们在日本人群中鉴定出塔帕辛的两个等位基因，并分析了这些等位基因与HLA - DPB1、- DQB1和 - DRB1等位基因的关联性。在日本人群中，塔帕辛01和02的等位基因频率估计分别为0.37和0.63。塔帕辛与HLA - DPB1基因座表现出强烈的连锁不平衡。鉴定出了几种常见的四位点单倍型，包括DRB10901 - DQB10303 - DPB10501 - 塔帕辛02、DRB10901 - DQB10303 - DPB10201 - 塔帕辛02和DRB11302 - DQB10604 - DPB10401 - 塔帕辛02。