与HIV-1感染相关的甘露糖结合蛋白基因多态性分析

Polymorphism of mannose-binding protein alleles associated with human immunodeficiency virus-1 infection in Chinese Han and Uigur ethnic populations.

目的 分析中国汉族和维吾尔族人群中甘露糖结合蛋白 (MBP)基因的等位基因多态性特点 ,初步探讨MBP基因多态性与艾滋病病毒 1型 (HIV 1)感染之间的相关性。方法 从 85 6例个体 (汉族 60 6例、维吾尔族 2 5 0例 )的外周血中提取基因组脱氧核糖核酸 (DNA) ,应用聚合酶链反应 限制性内切酶片段长度多态性 (PCR RFLP)分析检测MBP基因外显子 1区域第 5 2、5 4、5 7密码子部位的 3个等位基因多态性 ,并随机抽样经DNA直接测序进行验证。结果 在健康人群中 ,MBP 5 4等位基因突变频率汉族为 0 189,维吾尔族为 0 12 1。该等位基因多态性分布在这两个民族中均符合Hardy Weinberg平衡 ,两个民族在健康人群中的基因型分布和突变基因频率差异均有显著的统计学意义 ( χ2 =5 5 3 ,P =0 0 2 2 )。汉族的HIV 1感染组、高危对照组和相应的健康人群之间 ,MBP 5 4等位基因的突变频率差异无显著的统计学意义。维吾尔族高危对照组与健康人群相比 ,MBP 5 4基因的突变频率差异亦无显著的统计学意义。维吾尔族HIV 1感染组与高危对照组以及与相应的健康人群相比 ,MBP 5 4基因的突变频率的差异均有显著的统计学意义。在所检测的人群中 ,均未发现MBP基因的第 5 2、5 7密码子部位有基因突变。结论 在汉族和维吾尔族人群中MBP

Objective To evaluate the polymorphism of mannose-binding protein(MBP)gene and its implication in human immunodeficiency virus-1(HIV-1)infection in individuals of Chinese Han and Uigur ethnic origins. Methods Genomic deoxyribonucleic acid(DNA)samples were purified from the whole peripheral blood of 856 subjects.Polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP)assay was used for genotyping the exon 1 of mannose-binding protein genes,which was further confirmed by DNA sequencing by 310 genetic analyzer. Results Mutant frequencies of MBP-54 alleles were 0.189 and 0.121 for Han and Uigur healthy individuals respectively,showing significant differences between the two ethnic groups(χ 2=5.53,P=0.022).There is a good agreement with Hardy-Weiberg equilibrium for MBP-54 allelic distribution in these samples.The statistical analyses showed that there is no significant difference for allelic frequencies or genotypes among healthy individuals,high-risk populations and HIV-1 infected persons in Han and Uygur populations except for a statistical difference between HIV-1 infected persons and healthy controls in Uygur ethnic.In this study,no allelic mutations of either MBP-52 or MBP-57 genes were found in examined samples. Conclusion Our study suggests that genetic polymorphism of mannose-binding protein alleles are different between the Han and Uygur populations.Whether the higher mutant frequencies of MBP-54 allele in HIV-1-infected subjects are associated with the genetic susceptibility and disease progression is needed to be further clarified in follow-up investigation.