吉林汉族人群HLA-A高分辨基因的多态性分析

背景:HLA与免疫遗传学、免疫生物学密切相关,其分型对于器官移植和非感染性疾病的易感性有重要意义。目的:调查吉林汉族人群HLA-A位点基因多态性,分析不同人群HLA-A等位基因频率分布特征。方法:采用基因测序技术检测2196名吉林汉族人HLA-A位点第2、3、4外显子序列,软件分析得到分型结果,计算各等位基因频率并与不同人群进行比较。结果与结论:共检测到42种HLA-A等位基因,其中3种等位基因频率≥5%,分别是HLA-A*02:01(8.5%),HLA-A*11:01(8.2%)和HLA-A*24:02(7.3%),这3种等位基因频率合计为24.0%。同时,检测到39种等位基因频率<0.5%的HLA-A等位基因,这39种等位基因频率合计为76.0%。吉林汉族人群HLA-A等位基因频率分布与美国亚裔人群、中国香港华人、日本人相比存在一定差异。提示吉林汉族人群HLA-A基因的分布有地域特征。

Human leukocyte antigen-A gene polymorphism detected by high resolution sequence based typing in Jilin Han populations

BACKGROUND:Human leukocyte antigen(HLA) is closely related with immunogenetics and immunobiology,its types influence the outcome of clinical transplantation and confer susceptibility to a wide range of non-infectious diseases.OBJECTIVE:To investigate the genetic polymorphism of HLA-A locus gene in Jilin Han populations and to compare the distribution characteristic of the allele frequency with that in other populations.METHODS:A total of 2 196 blood samples from Jilin Han populations were analyzed by sequence based typing.Then the sequences encompassing exons 2,3 and 4 for HLA-A gene were analyzed by direct sequencing of polymerase chain reaction products.The allele frequency distribution of HLA-A in this populations was compared with that in other populations.RESULTS AND CONCLUSION:A total of 42 different HLA-A alleles were detected,and among them,3 HLA-A alleles with frequencies were higher than 5%,they were HLA-A*02:01(8.5%),HLA-A*11:01(8.2%) and HLA-A*24:02(7.3%).The total frequency of the 3 alleles was 24.0%.At the same time,there were 39 kinds of HLA-A allele with frequencies lower than 0.5%;the total frequency of these alleles was 76.0%.There were some differences of frequency distribution of HLA-A allele in Jilin Han population when compared with American Asian,the Chinese populations from Hong Kong and Japanese,respectively.The results show the geographical characteristic of HLA-A distribution in Jilin Han populations.