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目的 分析中国 5个民族人群中甘露糖结合蛋白 (mannose- binding protein,MBP)基因多态性特点 ,并比较汉族慢性乙型肝炎患者与健康对照之间 MBP基因多态性的差异。方法 应用聚合酶链反应 -限制性内切酶片段长度多态性分析 ,对中国 5个民族的 95 5份样品的 MBP基因多态性进行检测 ,并将2 2份汉族人样品的 PCR产物直接进行 DNA序列分析。结果 报告了中国汉族人 MBP基因第 1外显子及其两侧附近的 DNA序列 ;5个民族 MBP基因密码子 5 4(MBP- 5 4)等位基因突变频率分别为 :汉族 0 .181、维吾尔族 0 .12 8、蒙古族 0 .181、藏族 0 .179和彝族 0 .181;5个民族的 MBP- 5 4基因多态性分布均符合Hardy- Weinberg平衡 ;与汉族人群相比 ,维吾尔族的 MBP- 5 4等位基因多态性和等位基因频率的差异有显著性 ;汉族慢性乙型肝炎患者与健康对照组之间 MBP- 5 4等位基因多态性和等位基因频率的差异无显著性。所有人群中未检测到密码子 5 2和 5 7基因突变。结论 在所调查的 5个民族中 ,存在较高比例的 MBP-5 4基因突变 ,MBP基因的缺失并不与慢性乙型肝炎相关联。
Objective To analyze the polymorphism of mannose-binding protein (MBP) gene in five Chinese ethnic groups and to compare the polymorphism of MBP gene between Han patients with chronic hepatitis B and healthy controls. Methods Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to detect MBP gene polymorphism in 955 samples of 5 ethnic groups in China. The PCR products of 22 Han samples were directly analyzed DNA sequence analysis. Results The DNA sequence of exon 1 and its adjacent flanking region of MBP gene was reported in Chinese Han nationality. The frequencies of MBP-54 codon 5 (5) alleles of Han nationality were 0.181, The distribution of MBP-54 gene polymorphism of Uygur nationality 0.128, Mongolian national minority 0.181, Tibetan national minority 0 .179 and Yi nationality national minority 0. 181; 5 ethnic groups all accord with Hardy-Weinberg equilibrium. Compared with Han nationality population, Uyghur The genotypes of MBP-54 alleles and allele frequencies were significantly different between Han nationality patients with chronic hepatitis B. The MBP-54 alleles and allele frequencies The difference was not significant. No codons 5 2 and 5 7 gene mutations were detected in all populations. Conclusions Among the five ethnicities investigated, there is a high proportion of MBP-54 gene mutations, MBP gene deletion is not associated with chronic hepatitis B.