中国五个民族的甘露糖结合蛋白基因多态性特点及意义

来源 :中华医学遗传学杂志 | 被引量 : 0次 | 上传用户:asdf200201
下载到本地 , 更方便阅读
声明 : 本文档内容版权归属内容提供方 , 如果您对本文有版权争议 , 可与客服联系进行内容授权或下架
论文部分内容阅读
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.
其他文献
目的 研究大肠杆菌多重耐药操纵子 (mar)在临床分离株中的表达。方法 采用聚合酶链反应扩增大肠杆菌临床分离株染色体基因组中多重耐药操纵子 ,经Southernblot鉴定 ,用限制