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目的调查江苏地区合格献血者HLA-G 3’非编码区(3’-UTR)基因多态性和单体型特征。方法提取江苏地区合格献血者全血基因组DNA,PCR方法扩增HLA-G 3’UTR,利用基因测序对多态性位点进行基因分型,直接计算基因频率和基因型频率,利用SHEsis软件分析单体型。结果江苏地区88名献血者HLA-G 3’UTR共有8个多态性位点:+2960 14 bp插入/缺失,+3003C/T,+3010C/G,+3027A/C,+3035C/T,+3142C/G,+3187A/G,+3196C/G,其基因频率及基因型频率均符合Hardy-weinberg平衡定律(P>0.05);各位点紧密连锁(D’>0.7),SHEsis软件分析求得频率>0.03的单体型有6种,其中单体型UTR-3(DTCCCG AC,频率=0.256)最为常见。结论本研究分析了江苏地区合格献血者HLA-G 3’UTR的8个多态性位点、连锁不平衡和单体型频率的特征,对于研究本地区HLA-G的基因多态性以及与相关疾病的关系提供了重要依据。
Objective To investigate the polymorphism and haplotype characteristics of 3’-UTR (HLA-G 3 ’UTR) in eligible donors in Jiangsu province. Methods Genomic DNA from whole blood of eligible blood donors in Jiangsu province was amplified. The HLA-G 3’UTR was amplified by PCR. Gene polymorphism was genotyped by gene sequencing. The gene frequencies and genotype frequencies were directly calculated. SHEsis software was used to analyze the genomic DNA. Monomer. Results There were 8 polymorphic sites in HLA-G 3’UTR of 88 blood donors in Jiangsu Province: +2960 14 bp insertions / deletions, +3003 C / T, +3010 C / G, +3027 A / C, +3035 C / + 3142C / G, + 3187A / G and + 3196C / G respectively. The gene frequencies and genotype frequencies were in accordance with Hardy-Weinberg equilibrium (P> 0.05) Six haplotypes were obtained at frequencies> 0.03, of which haplotype UTR-3 (DTCCCG AC, frequency = 0.256) was the most common. Conclusion This study analyzed the characteristics of eight polymorphic sites, linkage disequilibrium and haplotype frequencies of HLA-G 3’UTRs in eligible blood donors in Jiangsu Province. Related diseases provide an important basis for the relationship.