Lee K W, Jung Y-A, Oh D H
Hallym Institution for Genome Application, Hallym University Sacred Heart Hospital, Anyang, South Korea.
Tissue Antigens. 2007 Apr;69 Suppl 1:82-4. doi: 10.1111/j.1399-0039.2006.761_2.x.
Genotype of the human leukocyte antigen (HLA)-DQA1 locus was analyzed in Koreans (n= 467) using the 14th International Workshop protocol established to characterize the sequences of exons 1-4 of the gene. Unexpectedly, it appeared that the DQA1 (19 alleles) was more diverse than DQB1 (15 alleles) in the study population. DQA1010201, DQA10303, DQA10103, and DQA10302 appeared to be major alleles exhibiting more than 10%. Among six allele groups, DQA101-06, DQA101 showed highest diversity exhibiting seven different alleles. Analysis using maximum likelihood method showed numerous multi-locus HLA haplotypes. High relative linkage disequilibrium values (RLD) of the two-locus haplotypes and exclusive association of a specific DQA1 allele with a specific DRB1 and/or DQB1 alleles suggested tight linkage of DQA1 to DRB1 and DQB1. In HLA-matching process for hematopoietic stem cell transplantation, however, DQA1 typing would be informative for individuals carrying specific DRB1 allele (DRB10802, DRB11201, or DRB11403) that could be associated with multiple DQA1 alleles in the study population. Information obtained in this study will be useful in medical and forensic areas as well as in anthropology.
采用为鉴定该基因第1 - 4外显子序列而制定的第14届国际研讨会方案，对467名韩国人的人类白细胞抗原（HLA）- DQA1基因座基因型进行了分析。出乎意料的是，在研究人群中，DQA1（19个等位基因）似乎比DQB1（15个等位基因）具有更高的多样性。DQA1010201、DQA10303、DQA10103和DQA10302似乎是主要等位基因，其出现频率超过10%。在六个等位基因组DQA101 - 06中，DQA101表现出最高的多样性，有七个不同的等位基因。使用最大似然法分析显示存在众多多基因座HLA单倍型。两位点单倍型的高相对连锁不平衡值（RLD）以及特定DQA1等位基因与特定DRB1和/或DQB1等位基因的排他性关联表明DQA1与DRB1和DQB1紧密连锁。然而，在造血干细胞移植的HLA配型过程中，对于携带特定DRB1等位基因（DRB10802、DRB11201或DRB11403）的个体，DQA1分型可能会提供有用信息，在研究人群中这些DRB1等位基因可能与多个DQA1等位基因相关。本研究获得的信息将在医学、法医学领域以及人类学中发挥作用。
