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为检测HIV-1感染相关基因CCR5Δ32在新疆维族HIV高危人群中基因突变频率,探讨CCR5Δ32基因突变与新疆维族HIV高危人群感染艾滋病的关系。以470名维族HIV高危人群(经Western印迹法确诊HIV阳性246人,HIV阴性224人)为研究对象,抽提全血基因组DNA,多重PCR扩增,多重LDR反应,用测序仪检测CCR5Δ32的突变频率。结果:本研究在维族HIV高危人群中检测出CCR5Δ32纯合子突变2例(其中HIV阳性1例,HIV阴性1例),CCR5Δ32杂合子突变38例(HIV阳性24例,HIV阴性14例)。维族HIV高危人群中CCR5Δ32基因突变频率为4.47%,其基因突变在维族HIV高危人群中,HIV阳性和HIV阴性人群组分布差异无统计学意义(P>0.05)。在不同性别的维族HIV高危人群中分布差异无统计学意义(P>0.05)。CCR5Δ32的突变频率在不同接触类型的高危人群中分布差异有统计学意义(P<0.05)。结论:新疆维族HIV高危人群中CCR5Δ32基因突变频率明显高于中国其他民族人群,高暴露环境是艾滋病在新疆地区的高流行的主要原因。
To detect the frequency of gene mutation of CCR5Δ32 associated with HIV-1 infection in HIV-positive Uyghur population in Xinjiang and investigate the relationship between CCR5Δ32 gene mutation and HIV / AIDS in high-risk Uyghur HIV-infected population in Xinjiang. A total of 470 HIV-positive Uighur population (246 HIV-positive and 224 HIV-negative) were enrolled in this study. Whole blood genomic DNA was extracted, multiplex PCR amplification and multiple LDR reactions were performed. Sequencing was used to detect the mutation of CCR5Δ32 frequency. Results: In our study, 2 CCR5Δ32 homozygous mutations (1 HIV positive, 1 HIV negative) and 38 CCR5Δ32 heterozygous mutations (24 HIV positive and 14 HIV negative) were detected in Uighur HIV-positive population. The mutation frequency of CCR5Δ32 gene in Uighur HIV-infected population was 4.47%. There was no significant difference in the distribution of CCR5Δ32 gene among HIV-positive and HIV-negative population in Uighur HIV-positive population (P> 0.05). There were no significant differences in the distribution of HIV among Uighur HIV patients of different genders (P> 0.05). The frequency of CCR5Δ32 mutation was significantly different among high-risk groups with different exposure types (P <0.05). CONCLUSION: The frequency of CCR5Δ32 mutation in HIV-positive Uighur population is significantly higher than that of other ethnic groups in China. The high exposure is the main reason for the high prevalence of AIDS in Xinjiang.