Key Laboratory of Environment and Gene Related to Diseases, Xi'an Jiaotong University, Ministry of Education, Xi'an, Shaanxi, People's Republic of China.
Hum Immunol. 2010 Jun;71(6):627-33. doi: 10.1016/j.humimm.2010.02.012. Epub 2010 Mar 12.
The allele and haplotype frequencies of HLA-A, -B and -DRB1 loci in 10,000 healthy unrelated Han individuals living in the Guanzhong region of the Shaanxi Province were analyzed with the methods of SSO, SSP and SBT. Subsequently, these data were compared with results obtained in Han populations living in other regions as well as to other ethnic groups, using genetic distance measurements, neighbor-joining dendrograms and principal component analysis. In total 18 alleles were detected at the HLA-A locus, 46 alleles at the HLA-B locus and 14 alleles at the HLA-DRB1 locus. HLA-A02 was the most common HLA-A allele (29.70%), followed by A11 (18.70%), and A24 (15.75%); whereas at the HLA-B locus, the allele with the highest frequency was HLA-B13 (10.76 %), followed by B46 (7.93%), B51 (7.68%). At the HLA-DRB1 locus, the most common alleles were HLA-DRB115 (15.54%), DRB109 (13.18%) and DRB104 (11.21%). Three-loci haplotype analysis revealed that HLA A30- B13- DRB107 (4.11%), A02 -B46 -DRB109 (2.57%) and A33 -B58 -DRB117 (1.32%) were the most common haplotypes in this population. Four two-loci haplotypes, including HLA-A30-B43, A30-B53, B43-DRB107 and B73-DRB104 had significant linkage disequilibrium (relative linkage disequilibrium parameter equals to 1). Compared with other populations, our results indicated that the Han populations in different regions had a similar allelic diversity of HLA -A, -B, and -DRB1 loci. The Han population in the Guanzhong region of the Shaanxi Province had a close genetic relationship with the Northern and Southern Han populations. In summary, the similarities and differences of the HLA allelic diversity and haplotype structure between the Han population in the Guanzhong region and related populations, regarding HLA genotype distribution, provide basic information for further studies of the HLA heterogeneity and anthropological studies.
对 10000 名居住在陕西省关中地区的汉族健康无关个体的 HLA-A、-B 和 -DRB1 基因座的等位基因和单体型频率进行了分析，采用 SSO、SSP 和 SBT 方法。随后，使用遗传距离测量、邻接聚类树和主成分分析，将这些数据与其他地区汉族人群以及其他种族的结果进行了比较。在 HLA-A 基因座共检测到 18 个等位基因，在 HLA-B 基因座检测到 46 个等位基因，在 HLA-DRB1 基因座检测到 14 个等位基因。HLA-A02 是最常见的 HLA-A 等位基因（29.70%），其次是 A11（18.70%）和 A24（15.75%）；而在 HLA-B 基因座，频率最高的等位基因为 HLA-B13（10.76%），其次是 B46（7.93%）和 B51（7.68%）。在 HLA-DRB1 基因座，最常见的等位基因为 HLA-DRB115（15.54%）、DRB109（13.18%）和 DRB104（11.21%）。三基因座单体型分析显示，HLA A30-B13-DRB107（4.11%）、A02-B46-DRB109（2.57%）和 A33-B58-DRB117（1.32%）是该人群中最常见的单体型。四个双基因座单体型，包括 HLA-A30-B43、A30-B53、B43-DRB107 和 B73-DRB104，存在显著的连锁不平衡（相对连锁不平衡参数等于 1）。与其他人群相比，我们的结果表明，不同地区的汉族人群在 HLA-A、-B 和 -DRB1 基因座上具有相似的等位基因多样性。陕西关中地区汉族人群与北方和南方汉族人群具有密切的遗传关系。总之，关中地区汉族人群与相关人群在 HLA 等位基因多样性和单体型结构上的相似性和差异，以及 HLA 基因型分布，为进一步研究 HLA 异质性和人类学研究提供了基础信息。
