广州脐血库3种HLA等位基因频率分布规律分析

Alleles frequency distributions of HLA-Cw,DPB1 and DQB1 in guangzhou umbilical cord blood bank

目的:以HLA高分辨测序分型技术为平台,调查广州脐血库HLA-Cw、DPB1、DQB1等位基因的多态性及HLA等位基因分布规律,建立相应的基因遗传数据分析资料,并为临床移植提供必要的HLA分型数据。方法:采用基于测序的PCR技术(sequencing based typeSBT),对广州脐血库128份脐血进行HLA-Cw、DPB1、DQB1等位基因测序分型。结果:HLA-Cw共检出20个等位基因型,其中HLA-Cw*0102基因频率最高,达22.70%;HLA-DQB1共检出16种等位基因型,其中HLA-DQB1*0301基因频率最高,达24.20%;HLA-DPB1共检出20种等位基因型,其中HLA-DPB1*0501基因频率最高,达41.0%。统计分析表明Cw、DPB1、DQB1位点的基因分布符合Hardy-weinburg平衡(P=0.081,0.156和0.079,均>0.05)。结论:统计数据显示HLA-Cw、DPB1、DQB1位点处于遗传平衡状态,具有较丰富多态性。广州脐血库HLA-Cw及HLA-DQB1等位基因分布与中国北方人群差异无统计学意义,而HLA-DPB1等位基因分布与中国北方人群差异有统计学意义。

Objective：To investigate the gene polymorphisms of HLA-Cw, DQB1 and DPB1 alleles in Guangzhou Cord Blood Bank, to provide basic data for further study on the genetic characteristics of HLA w, DQB1 and DPB1 alleles, and to provide the necessary information of HLA typing for clinical transplant centers. Method：128 umbilical cord blood units were tested for HLA-Cw, DQB1 and DPB1 typing, PCR-SBT（Sequencing based typing） were used to get high resolution HLA typing results in this study. Result=20, 16 and 20 alleles were presented in this study. In HLA-Cw, Cw＊0102 （22.7%） showed the highest frequency followed by Cw ＊ 0304 （16.00%） and Cw ＊ 0702 （16.00%） ; In HLA-DQB1, DQB1 ＊ 0301 presented the highest frequency of 24. 20%, followed by DQB1 ＊ 0303 （20.50%） and DQB1 ＊ 0201 （18.90%） ; while DPB1 ＊ 0201 （41.00%） owned the highest frequency in HLA-DPB1 in this research, followed by DPB1 ＊ 0201 and DPB1 ＊ 0401. The frequencies of DQB1 ＊ 0602, DPB1 ＊ 0201, DPB1 ＊ 0301, DPB1 ＊ 0401 and DPB1 ＊ 0402 alleles were significantly higher than those in Shanghai or Shenyang Han population. Conclusion：Distributions of the HLA-Cw and HLA-DQB1 allele polymorphism are similar to those in north of China,while the distribution of HLA-DPB1 is significantly different from that in north of China.