基于序列的日本人群中HLA I类和II类等位基因关联分析支持常见单倍型的保守性。

Sequence-based association analysis of HLA class I and II alleles in Japanese supports conservation of common haplotypes.

作者信息

Tokunaga K, Ishikawa Y, Ogawa A, Wang H, Mitsunaga S, Moriyama S, Lin L, Bannai M, Watanabe Y, Kashiwase K, Tanaka H, Akaza T, Tadokoro K, Juji T

机构信息

Department of Human Genetics, Graduate School of International Health, University of Tokyo, Tokyo, Japan.

出版信息

Immunogenetics. 1997;46(3):199-205. doi: 10.1007/s002510050262.

DOI:10.1007/s002510050262

PMID:9211745

Abstract

Alleles of HLA-A, B, C, DRB1, DQB1, and DPB1 loci were fully determined in 117 healthy Japanese. A2402, A3303, A1101, A0201, B4403, B5201, Cw0102, Cw1403, Cw0304, Cw0702, Cw0801, and Cw1202 showed frequencies of over 10%. Multi-locus haplotype frequencies were estimated by the maximum likelihood method. Strength of association between C and B loci was comparable with that between DRB1 and DQB1 loci. Alleles unidentified by a serological method and having very similar nucleotide sequences (A2: A0201, A0206, A0207, B61: B4002, B4006) were carried by different haplotypes. Several frequent five-locus haplotypes were identified including A3303-Cw1403-B4403-DRB1()1302-DQB1()0604, and A2402-Cw1202-B5201-DRB1()1502-DQB1(*)0601. These sequence-based haplotypes corresponded to serology-based common haplotypes which have already been described in Japanese. These findings indicate that common HLA haplotypes consist of particular sets of HLA alleles and that these haplotypes have been conserved through recent human evolution.

摘要

在117名健康日本人中完全确定了HLA - A、B、C、DRB1、DQB1和DPB1基因座的等位基因。A2402、A3303、A1101、A0201、B4403、B5201、Cw0102、Cw1403、Cw0304、Cw0702、Cw0801和Cw1202的频率超过10%。通过最大似然法估计多基因座单倍型频率。C基因座和B基因座之间的关联强度与DRB1和DQB1基因座之间的关联强度相当。血清学方法未鉴定出但具有非常相似核苷酸序列的等位基因（A2：A0201、A0206、A0207，B61：B4002、B4006）由不同的单倍型携带。鉴定出了几种常见的五位点单倍型，包括A3303 - Cw1403 - B4403 - DRB1()1302 - DQB1()0604和A2402 - Cw1202 - B5201 - DRB1()1502 - DQB1(*)0601。这些基于序列的单倍型对应于日本人群中已经描述过的基于血清学的常见单倍型。这些发现表明常见的HLA单倍型由特定的HLA等位基因组合组成，并且这些单倍型在近代人类进化过程中得以保留。