Liu X X, Pan F H, Tian W
Department of Immunology, College of Basic Medical Sciences, Central South University, Changsha, Hunan, People's Republic of China.
Tissue Antigens. 2012 Jul;80(1):26-35. doi: 10.1111/j.1399-0039.2012.01873.x. Epub 2012 Apr 5.
In this study, human leukocyte antigen (HLA)-E allelic typing was performed for 690 individuals from two southern Chinese Han populations (Hunan Han and Guangdong Han) and two northern Chinese populations (Inner Mongolia Han and Inner Mongolia Mongol) using polymerase chain reaction-sequence-specific priming (PCR-SSP) method. Our data showed that (1) HLA-E01:01 and HLA-E01:03, but not E01:04 allele, were detected in the four populations, HLA-E distribution differed significantly between each of the two southern Chinese Han populations and the Inner Mongolia Mongol population, and between Hunan Han population and Inner Mongolia Han population; (2) HLA-G01:05N-A30-E01:01-C06-B13:02-DRB107 was a conserved extended haplotype in the Chinese Han populations; (3) five HLA-A-E haplotypes showed significant linkage disequilibrium (LD) in at least one population, including HLA-A02-E01:03 in populations except for the Inner Mongolia Mongol group, HLA-A01-E01:01 and HLA-A30-E01:01 in the Hunan Han and the Inner Mongolia Han populations, HLA-A33-E01:01 in the two southern Chinese Han populations and HLA-A03-E*01:03 in the Inner Mongolia Mongol group; and (4) Ewens-Watterson homozygosity test showed a trend for balancing selection at the HLA-E locus in each of the four populations. Our data unraveled the peculiarity in terms of HLA-E allelic and haplotypic repertoire in four main ethnic groups in Mainland China, findings shown here are valuable for future studies of the potential role of HLA-E in allogeneic organ transplantation and HLA-linked disease association in related ethnic groups.
在本研究中，采用聚合酶链反应-序列特异性引物（PCR-SSP）方法，对来自中国南方两个汉族人群（湖南汉族和广东汉族）以及中国北方两个群体（内蒙古汉族和内蒙古蒙古族）的690名个体进行了人类白细胞抗原（HLA）-E等位基因分型。我们的数据表明：（1）在这四个人群中均检测到了HLA-E01:01和HLA-E01:03，但未检测到E01:04等位基因，中国南方两个汉族人群与内蒙古蒙古族人群之间，以及湖南汉族人群与内蒙古汉族人群之间，HLA-E的分布存在显著差异；（2）HLA-G01:05N-A30-E01:01-C06-B13:02-DRB107是中国汉族人群中一种保守的扩展单倍型；（3）五种HLA-A-E单倍型在至少一个群体中显示出显著的连锁不平衡（LD），包括除内蒙古蒙古族群体外的其他群体中的HLA-A02-E01:03、湖南汉族和内蒙古汉族人群中的HLA-A01-E01和HLA-A30-E01:01、中国南方两个汉族人群中的HLA-A33-E01:01以及内蒙古蒙古族群体中的HLA-A03-E*01:03；（4）Ewens-Watterson纯合性检验表明，在这四个人群的HLA-E基因座处均存在平衡选择的趋势。我们的数据揭示了中国大陆四个主要民族在HLA-E等位基因和单倍型组成方面的特殊性，此处所示结果对于未来研究HLA-E在同种异体器官移植中的潜在作用以及相关民族中HLA连锁疾病关联具有重要价值。
