HLA class II allele and haplotype frequencies in Koreans based on 3.07 families
HLA class II allele and haplotype frequencies in Koreans based on 3.07 families
复制标题
DOI：
10.1034/j.1399-0039.2002.590604.x
复制
发表时间：
2002-06-01
期刊：
影响因子：
--
通讯作者：
Juji, T
中科院分区：
文献类型：
--
作者：
Song, EY;Park, MH;Juji, T
我们调查了107个韩国家庭（207名父母和291名儿童）HLA- drb1、DRB3/B4/B5、DQA1、DQB1和DPB1位点的HLAⅱ类等位基因和单倍型分布。每个位点的等位基因数分别为DRB1: 25、DQA1: 14、DQB1: 15、DPB1: 13。DRB3（*0101、*0202、*0301）、DRB4（*0103、*0103102N）和DRB5（*0101、*0102）位点仅检测到2 ~ 3个等位基因，这些等位基因与DRB1等位基因具有较强的相关性：DRB3*0101与DRB1*1201、*1301、*1403；DRB3*0301与DRB1*1202和*1302；DRB3*0202与DRB1*0301、*1101、*1401、*1405；DRB5*0101和*0102分别与DRB1*1501和*1502呈负相关。频率为> - 0.06的7种最常见DRB1-DQB1单倍型占总单倍型的52%，这些单倍型与7种最常见DRB1-DRB3/B4/B5-DQA1-DQB1单倍型具有专一性：DRB1 * 1501 - drb5 * 0101 - dqa1 * 0102 - dqb1 * 0602 (0.085), DRB1 * 0405 - drb4 * 0103 - dqa1 * 0303 - dqb1 * 0401 (0.082), DRB1 * 09012 - drb4 * 0103 - dqa1 * 0302 - dqb1 * 03032 (0 0829) DRB1 * 0101 - dqa1 * 0101 - dqb1 * 0501 (0.075), DRB1 * 0701 - drb4 * 0103 - dqa1 * 0201 - dqb1 * 0202 (0.065), DRB1 * 0803 - dqa1 * 0103 - dqb1 * 0601(0.065),和DRB1 * 1302 - drb3 * 0301 - dqa1 * 0102 - dqb1 * 0604(0.065),当这些单扩展到DPB1轨迹,多样化的观察单,只剩下一个单体型频率> 0.06:DRB1 * 0405 - drb4 * 0103 - dqa1 * 0303 - dqb1 * 0401 dpb1 * 0501(0.062)。这种多样化可能是HLA II类区域内重组事件累积的结果，HLA- dqb1和DPB1位点之间观察到的实际重组率为2.3%（10/438个信息减数损失，其中2个通过TAP基因分析信息重组）。与其他人群的DRB1-DQB1单倍型分布进行比较发现，韩国人与日本人最接近。但是，韩国人的单倍型与白人和非洲人的DRB1*0701-DQB1*0202和DRB1*1302-DQB1*0609是相同的，这在日本人中是罕见的。本研究结果将为人类学、器官移植和疾病关联研究提供有用的信息。
We have investigated the distribution of HLA class II alleles and haplotypes in 107 Korean families (207 parents and 291 children) for the HLA-DRB1, DRB3/B4/B5, DQA1, DQB1 and DPB1 loci. Numbers of alleles observed for each locus were DRB1: 25, DQA1: 14, DQB1: 15, and DPB1: 13. Only two to three alleles were observed for the DRB3 (*0101, *0202, *0301), DRB4 (*0103, *0103102N), and DRB5 (*0101, *0102) loci, These alleles showed strong associations with DRB1 alleles: DRB3*0101 with DRB1*1201, *1301 and *1403; DRB3*0301 with DRB1*1202 and *1302; DRB3*0202 with DRB1*0301, *1101, *1401 and *1405; DRB5*0101 and *0102 were exclusively associated with DRB1*1501 and *1502, respectively. The seven most common DRB1-DQB1 haplotypes of frequencies >0.06 accounted for 52% of the total haplotypes, These haplotypes were exclusively related with the seven most common DRB1-DRB3/B4/B5-DQA1-DQB1 haplotypes: DRB1*1501-DRB5*0101-DQA1*0102-DQB1*0602 (0.085), DRB1*0405-DRB4*0103-DQA1*0303-DQB1*0401 (0.082), DRB1*09012-DRB4*0103-DQA1*0302-DQB1*03032 (0 0829) DRB1*0101-DQA1*0101-DQB1*0501 (0.075), DRB1*0701-DRB4*0103-DQA1*0201-DQB1*0202 (0.065), DRB1*0803-DQA1*0103-DQB1*0601 (0.065), and DRB1*1302-DRB3*0301-DQA1*0102-DQB1*0604 (0.065), When these haplotypes were extended to the DPB1 locus, much diversification of haplotypes was observed and only one haplotype remained with a frequency of >0.06: DRB1*0405-DRB4*0103-DQA1*0303-DQB1*0401-DPB1*0501 (0.062). Such diversification would have resulted from cumulated events of recombination within the HLA class II region, and the actual recombination rate observed between the HLA-DQB1 and DPB1 loci was 2.3% (10/438 informative meioses, including 2 recombinants informative by analysis of TAP genes). Comparison of the distribution of DRB1-DQB1 haplotypes with other populations revealed that Koreans are closest to Japanese people. However, Koreans share a few haplotypes with white people and Africans, which are rare in Japanese: DRB1*0701-DQB1*0202 and DRB1*1302-DQB1*0609. The results obtained in this study will provide useful information for anthropology, organ transplantation and disease association studies.