【摘要】 目的研究南方汉族人群HLA-E基因的分子遗传多态性。方法随机选择150人份南方汉族健康无关个体,采用1对PCR引物特异性扩增HLA-E基因第1-5外显子目的序列,纯化后的PCR扩增产物作为测序模板,对HLA-E基因的第2、3、4外显子进行双向测序,测序反应产物纯化后经ABI3730测序仪电泳,用Assign 3.5 SBT软件分析结果。结果所检测的150例标本均扩增出清晰的目的条带,对HLA-E基因外显子2-4进行双向测序,所获得的序列无背景信号和杂峰。检出了2种HLA-E等位基因,其中HLA-E*01∶01等位基因频率为0.42,HLA-E*01∶03等位基因频率为0.58。3种HLA-E基因型频率的分布符合Hardy-weinberg平衡定律。结论本文所获得了南方汉族人群HLA-E基因分子遗传多态性等基础数据,可为HLA-E的疾病关联研究、临床移植等提供重要参考。更多还原

【Abstract】 Objective To investigate the molecular genetic polymorphisms of HLA-E locus in Southern Han Chinese population. Methods The genomic DNA isolated from 150 unrelated healthy individuals from Southern Han Chinese population were amplified by using one pair of HLA-E specific PCR primer pair. The amplified target sequence spreading through exon 1 to 5 was then subjected to sequencing-based typing at exons 2,3 and 4 of HLA-E gene in both directions. The purified PCR products of sequencing reactions were performed electrophoresis on the ABI 3730 DNA Sequencer. The assignment of HLA-E genotype was accomplished by using the Assign 3. 5 SBT software. Results A total of 150 individuals were subjected to sequencing-based typing at exons 2,3 and 4 of HLA-E gene,but no background traces or signals were observed in the obtained sequences. Two alleles including HLA-E*01∶ 01 and HLA-E*01∶ 03 were identified,whose frequencies were 0. 42 and 0. 58,respectively. The frequencies of the three HLA-E genotypes were in accordance with Hardy-Weinberg Equilibrium. Conclusion The investigation and the results on the molecular genetic polymorphisms of HLA-E locus in Southern Han Chinese populations could provide fundamental and critical information for HLA-E-associated disease studies and clinical transplantation.更多还原