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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 5
Objective To analyze the allelic polymorphism of mannose - binding protein (MBP) gene in Chinese Han and Uygur population and to explore the relationship between MBP gene polymorphism and HIV - 1 infection. Methods Genomic DNA was extracted from the peripheral blood of 856 individuals (606 Han patients and 250 Uygur individuals) by polymerase chain reaction restriction fragment length polymorphism (PCR RFLP ) Was used to detect and analyze 3 alleles at codon 5, 5, 4, 5 and 7 of exon 1 region of MBP gene. Randomly selected samples were verified by DNA sequencing. Results In healthy subjects, the frequency of MBP 54 allele mutation was 0 189 in Han and 0 12 1 in Uyghur. The allele distribution in these two ethnic groups was in line with Hardy Weinberg equilibrium. The genotype distribution and mutation frequency of the two ethnic groups in healthy population were significantly different (χ2 = 533, P = 0 0 2 2). There was no significant difference in the mutation frequencies of MBP 54 alleles between Han HIV 1 infection group, high risk control group and corresponding healthy population. There was no significant difference in the frequency of mutation of MBP 5 4 between Uigur high risk control group and healthy population. The mutation frequency of MBP 5 4 gene in Uygur HIV 1 infection group was significantly higher than that in high risk control group and corresponding healthy population. No MBP gene mutation at codon 5, 25, 7 of the tested population was found. Conclusions MBP 5 among Han and Uighur populations