Wang Fang, Dong Lina, Wang Wei, Chen Nanying, Zhang Wei, He Ji, Zhu Faming
HLA Typing Laboratory, Blood Center of Zhejiang Province, Hangzhou, Zhejiang Province, China.
Key Laboratory of Blood Safety Research, Hangzhou, Zhejiang Province, 310052, China.
Int J Immunogenet. 2021 Dec;48(6):485-489. doi: 10.1111/iji.12554. Epub 2021 Sep 23.
The distributions of HLA allele and haplotype are various in the populations. Currently, the data for HLA alleles and haplotypes at three fields resolution level in Chinese Han population is rare. Here, the HLA alleles and haplotypes of the 1734 cord blood samples from Zhejiang Han population, China were reported at three fields resolution. All samples were randomly collected from the Zhejiang Cord Blood Bank, China. HLA-A, -B, -C, -DRB1, -DQB1, -DRB3/4/5 loci was genotyped using next generation sequencing method. The genotypes of the samples were assigned using the HLA TypeStream Visual Software version 1.2.0. The frequency of alleles, haplotype estimation and linkage disequilibrium analysis were performed with the Arlequin software 3.5.2.2. It was found that the top three frequent alleles of HLA-A, -B, -C, -DRB1, -DQB1, -DRB3/4/5 loci were A11:01:01 (25.81%), A24:02:01 (16.70%), A02:01:01 (10.61%); B40:01:02 (15.97%), B46:01:01 (11.48%), B58:01:01 (7.96%); C07:02:01 (19.03%), C01:02:01 (17.65%), C03:04:01 (10.41%); DRB109:01:02G (17.96%), DRB112:02:01 (9.57%), DRB108:03:02 (9.54%); DQB103:01:01G (21.05%), DQB103:03:02 (19.15%), DQB106:01:01G (12.08%); DRB401:03:01 (25.72%), DRB302:02:01 (20.27%), DRB501:01:01 (10.96%), respectively. A total of 1528 distinct A∼C∼B∼DRB3/4/5∼DRB1∼DQB1 haplotypes were estimated, and the top three most common haplotypes were A33:03:01∼C03:02:02∼B58:01:01∼DRB302:02:01∼DRB103:01:01∼ DQB102:01:01 (4.02%), A30:01:01∼C06:02:01∼B13:02:01∼DRB401:03:01∼ DRB107:01:01 ∼DQB102:02:01 (3.11%) and A02:07:01∼C01:02:01∼B46:01:01 ∼DRB401:03:01∼DRB109:01:02G∼DQB103:03:02 (3.05%). Some alleles of different HLA loci were shown strong linkage disequilibrium. In conclusion, the data of allele and haplotype of HLA-A, -B, -C, -DRB1, -DQB1 and -DRB3/4/5 loci at three fields resolution level were obtained in Zhejiang Han population, thus contributing to analyze the HLA ploymorphism in the populations.
HLA等位基因和单倍型在不同人群中的分布各不相同。目前，中国汉族人群在三位点分辨率水平上的HLA等位基因和单倍型数据较为稀少。在此，报告了来自中国浙江汉族人群的1734份脐血样本在三位点分辨率水平上的HLA等位基因和单倍型情况。所有样本均随机采集自中国浙江脐血库。采用新一代测序方法对HLA - A、- B、- C、- DRB1、- DQB1、- DRB3/4/5位点进行基因分型。使用HLA TypeStream Visual Software版本1.2.0对样本的基因型进行分型。采用Arlequin软件3.5.2.2进行等位基因频率、单倍型估计和连锁不平衡分析。结果发现，HLA - A、- B、- C、- DRB1、- DQB1、- DRB3/4/5位点最常见的前三位等位基因分别为A11:01:01（25.81%）、A24:02:01（16.70%）、A02:01:01（10.61%）；B40:01:02（15.97%）、B46:01:01（11.48%）、B58:01:01（7.96%）；C07:02:01（19.03%）、C01:02:01（17.65%）、C03:04:01（10.41%）；DRB109:01:02G（17.96%）、DRB112:02:01（9.57%）、DRB108:03:02（9.54%）；DQB103:01:01G（21.05%）、DQB103:03:02（19.15%）、DQB106:01:01G（12.08%）；DRB401:03:01（25.72%）、DRB302:02:01（20.27%）、DRB501:01:01（10.96%）。共估计出1528种不同的A∼C∼B∼DRB3/ /5∼DRB1∼DQB1单倍型，最常见的前三位单倍型分别为A33:03:01∼C03:02:02∼B58:01:01∼DRB302:02:01∼DRB103:01:01∼ DQB102:01:01（4.02%）、A30:01:01∼C06:02:01∼B13:02:01∼DRB401:03:01∼ DRB107:01:01 ∼DQB102:02:01（3.11%）和A02:07:01∼C01:02:01∼B46:01:01 ∼DRB401:03:01∼DRB109:01:02G∼DQB103:03:02（3.05%）。不同HLA位点的一些等位基因表现出强连锁不平衡。总之，获得了浙江汉族人群在三位点分辨率水平上HLA - A、- B、- C、- DRB1、- DQB1和 - DRB3/4/5位点等位基因和单倍型的数据，有助于分析人群中的HLA多态性。
