Sequence-based association analysis of HLA class I and II alleles in Japanese supports conservation of common haplotypes
Sequence-based association analysis of HLA class I and II alleles in Japanese supports conservation of common haplotypes
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DOI：
10.1007/s002510050262
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发表时间：
1997-01-01
期刊：
影响因子：
3.2
通讯作者：
Juji, T
中科院分区：
文献类型：
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作者：
Tokunaga, K;Ishikawa, Y;Juji, T
在117名健康日本人中全面测定了HLA-A、B、C、DRB 1、DQB 1和DPB 1基因座的等位基因。A*2402、A*3303、A*1101、A*0201、B*4403、B*5201、Cw*0102、Cw*1403、Cw*0304、Cw*0702、Cw*0801和Cw*1202的频率均在10%以上。C和B基因座之间的关联强度与DRB 1和DQB 1基因座之间的关联强度相当。通过血清学方法未鉴定的并且具有非常相似的核苷酸序列（A2：A*0201，A*0206，A*0207，B61：B*4002，B*4006）的等位基因由不同的单倍型携带。几个常见的五个位点的单倍型，包括A*3303-Cw*1403-B*4403-DRB 1 *1302-DQB 1 *0604，和A*2402-Cw*1202-B*5201-DRB 1 *1502-DQB 1 *0601。这些基于序列的单倍型对应于已经在日语中描述的基于血清学的常见单倍型。这些发现表明，共同的HLA单倍型由特定的HLA等位基因组组成，并且这些单倍型在最近的人类进化中一直是保守的。
Alleles of HLA-A, B, C, DRB1, DQB1, and DPB1 loci were fully determined in 117 healthy Japanese. A*2402, A*3303, A*1101, A*0201, B*4403, B*5201, Cw*0102, Cw*1403, Cw*0304, Cw*0702, Cw*0801, and Cw*1202 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: A*0201, A*0206, A*0207, B61: B*4002, B*4006) were carried by different haplotypes. Several frequent five-locus haplotypes were identified including A*3303-Cw*1403-B*4403-DRB1*1302-DQB1*0604, and A*2402-Cw*1202-B*5201-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.