中国南方汉族人群 HLA Ⅰ类（-A、-B、-C）和Ⅱ类（DRB1、DQA1、DQB1、DPA1、DPB1）基因多态性研究
[Study of polymorphisms of HLA class Ⅰ (-A, -B, -C) and class Ⅱ (DRB1, DQA1, DQB1, DPA1, DPB1) genes among ethnic Hans from Southern China].
作者信息
Jin Shizheng, Zou Hongyan, Zhen Jianxin, Wang Daming, He Liumei, Deng Zhihui
机构信息
Shenzhen Blood Center, Shenzhen, Guangdong 518035, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Feb 10;34(1):110-114. doi: 10.3760/cma.j.issn.1003-9406.2017.01.026.
OBJECTIVE
To study the genetic polymorphisms of human leukocyte antigen (HLA)- A, B, C, DRB1, DQA1, DQB1, DPA1and DPB1among ethnic Hans from southern China.
METHODS
481 randomly selected individuals were genotyped using a polymerase chain reaction (PCR) sequence-based typing (SBT) method for the above genes. Their allele frequencies were determined by direct counting.
RESULTS
In total, 28 HLA-A, 57 HLA-B, 28 HLA-C, 40 HLA-DRB1, 18 HLA-DQA1, 17 HLA-DQB1, 6 HLA-DPA1and 21 HLA-DPB1alleles were identified. Among these, common alleles (with allelic frequencies > 0.05) included A1101, A2402, A0207, A3303, A0201, B40:01, B46:01, B58:01, B13:01, B15:02, C01:02, C07:02, C03:04, C03:02, C08:01, C03:03, C04:01, DRB109:01, DRB115:01, DRB112:02, DRB108:03, DRB103:01, DRB104:05, DRB111:01, DQA101:02, DQA103:02, DQA103:03, DQA106:01, DQA101:03, DQA105:05, DQA101:04, DQA103:01, DQA105:01, DQB103:01, DQB103:03, DQB106:01, DQB105:02, DQB103:02, DQB102:01, DQB103:02, DQB106:02, DPA102:02, DPA101:03, DPA102:01, DPB105:01, DPB102:01, DPB113:01, DPB104:01and DPB1*02:02.For each of the locus, the overall frequencies of common alleles were 75.57%, 52.81%, 78.28%, 62.16%, 86.70%, 77.23%, 95.32% and 81.59%, respectively.
CONCLUSION
The allelic frequencies of the 8 selected HLA loci among ethnic Hans from southern China may served as a reference for anthropology, legal medicine, transplantation and disease association studies.
目的
研究中国南方汉族人群人类白细胞抗原（HLA）-A、B、C、DRB1、DQA1、DQB1、DPA1和DPB1的基因多态性。
方法
采用聚合酶链反应（PCR）序列分型（SBT）方法对随机选取的481名个体进行上述基因的基因分型。通过直接计数确定其等位基因频率。
结果
共鉴定出28个HLA-A等位基因、57个HLA-B等位基因、28个HLA-C等位基因、40个HLA-DRB1等位基因、18个HLA-DQA1等位基因、17个HLA-DQB1等位基因、6个HLA-DPA1等位基因和21个HLA-DPB1等位基因。其中，常见等位基因（等位基因频率>0.05）包括A1101、A2402、A0207、A3303、A0201、B40:01、B46:01、B58:01、B13:01、B15:02、C01:02、C07:02、C03:04、C03:02、C08:01、C03:03、C04:01、DRB109:01、DRB115:01、DRB112:02、DRB108:03、DRB103:01、DRB104:05、DRB111:01、DQA101:02、DQA103:02、DQA103:03、DQA106:01、DQA101:03、DQA105:05、DQA101:04、DQA103:01、DQA105:01、DQB103:01、DQB103:03、DQB106:01、DQB105:02、DQB103:02、DQB102:01、DQB103:02、DQB106:02、DPA102:02、DPA101:03、DPA102:01、DPB105:01、DPB102:01、DPB113:01、DPB104:01和DPB1*02:02。对于每个基因座，常见等位基因的总体频率分别为75.57%、52.81%、78.28%、62.16%、86.70%、77.23%、95.32%和81.59%。
结论
中国南方汉族人群中8个选定HLA基因座的等位基因频率可为人类学、法医学、移植和疾病关联研究提供参考。
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