Yao Y, Shi L, Shi L, Lin K, Yu L, Sun H, Huang X, Tao Y, Yi W, Liu S, Chu J
Department of Medical Genetics, Institute of Medical Biology, Chinese Academy of Medical Sciences & Peking Union Medical College, Kunming, China.
Tissue Antigens. 2009 Jun;73(6):575-81. doi: 10.1111/j.1399-0039.2009.01251.x. Epub 2009 Apr 6.
The study of the association between polymorphic Alu insertions [human leukocyte antigen (HLA)-Alu] at five loci and HLA class I alleles at two loci allows for better identification of the origins and evolution of HLA class I region haplotypes in different populations. In the present study, we determined the frequencies of five HLA-Alus and their associations with HLA-A and -B alleles in Han, Wa, Maonan, and Jinuo populations. Our results showed a strong association between AluHG insertion and HLA-A02 in all populations studied; however, the associations between AluHJ insertion and HLA-A1101 and HLA-A2402 and AluHF insertion and HLA-A2601 were only observed in Han. The AluMICB insertion showed a strong association with HLA-B5502 in Han, Maonan, and Jinuo. HLA-A0101, HLA-A0201, HLA-A0203, HLA-A1101, HLA-A2402, HLA-A2601, and HLA-A3101 alleles were associated with one or more of the three different Alu elements within the alpha block as independent haplotypes, and HLA-A0101, HLA-A0201, HLA-A0203, HLA-A1101, and HLA-A*2402 alleles were associated with at least two different Alu insertions as a haplotype within the alpha block. We conclude that the HLA class I region haplotypes of the four populations were derived from different progenitor haplotypes, and relatively high rates of recombination between individuals with HLA-A alleles and different HLA-Alus occurred in this region.
研究五个位点的多态性Alu插入序列（人类白细胞抗原（HLA）-Alu）与两个位点的HLA I类等位基因之间的关联，有助于更好地识别不同人群中HLA I类区域单倍型的起源和进化。在本研究中，我们测定了汉族、佤族、毛南族和基诺族人群中五种HLA-Alu的频率及其与HLA-A和 -B等位基因的关联。我们的结果显示，在所研究的所有群体中，AluHG插入与HLA-A02之间存在强关联；然而，AluHJ插入与HLA-A1101和HLA-A2402之间以及AluHF插入与HLA-A2601之间的关联仅在汉族中观察到。AluMICB插入在汉族、毛南族和基诺族中与HLA-B5502显示出强关联。HLA-A0101、HLA-A0201、HLA-A0203、HLA-A1101、HLA-A2402、HLA-A2601和HLA-A3101等位基因作为独立单倍型与α区域内三种不同的Alu元件中的一种或多种相关联，并且HLA-A0101、HLA-A0201、HLA-A0203、HLA-A1101和HLA-A*2402等位基因作为α区域内的单倍型与至少两种不同的Alu插入相关联。我们得出结论，这四个人群的HLA I类区域单倍型源自不同的祖代单倍型，并且该区域中具有HLA-A等位基因的个体与不同HLA-Alu之间的重组率相对较高。
