HIV/AIDS患者基因变异与疾病关系的研究

目的 研究HIV-1感染者／AIDS患者体内不同亚型HIV-1tat基因序列特征、突变特点及与疾病进展的关系。方法 采集辽宁省22例HIV感染者／AIDS患者的血液样本，提取含有整合HIV-1前病毒的基因组DNA，nested-PCR扩增后直接测序，并做序列排列比对、翻译和分析。结果22株辽宁省流行的HIV-1病毒分属B^ 及B^ ／C重组亚型。AIDS患者体内病毒tat区第一显子发生氨基酸突变，58位点出现T取代A，无症状感染者未发现此变异。此外还发现7，20，24,59，62，64位点出现取代变异，这些变异在AIDS病组要高于无症状感染组。结论 B^ 和B^ ／C重组亚型HIV-1tat基因第一外显子氨基酸序列发生的变异与疾病进展相关；同时还发现AIDS患者的tat基因第一外显子的其它一些取代变异。

Study on relationship between gene variation and disease progression of HIV/AIDS patients

Objective To study on the characters of HIV-1 Tat exon 1 amino acid sequence and mutations and the relationship with disease progression among HIV-1 infected people and AIDS patients.Methods To collect 22 cases' whole blood samples of HIV carriers and AIDS patients in Liaoning province and to extract the PBMC genome DNA.The HIV-1 tat exon 1 was amplified by nested-PCR with tat specific primers.Products were sequenced directly.Sequences were aligned,translated and analyzed.Results 22 cases HIV-1 strains epidemic in Liaoning were found to be of genetic subtype B' and B'/C.In AIDS group,finding some amino acid mutations at specific position of tat exon 1,position 58 T substitutes A.This variation appeared only in AIDS group.In addition some other variations in position 7,20,24,59,62,64 were found.AIDS group was higher than asymptomatic HIV-1 infection group as to these variation.Conclusion In AIDS patients of subtype B' and B'/C,there was amino acid sequence variation of HIV-1 tat exon 1 which position 58 T substituted A,which indicated its relationship with disease progression.At the same time,some other substitution variations of tat exon 1 in AIDS patients was found,whose significance needed further research.