摘要
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 detect the genotypes and sequences of the exon 1 of human mannose-binding protein (MBP) allele in 5 Chinese nationalities. Methods: The genotypes of MBP gene of 5 Chinese nationalities were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The exon 1 of the MBP gene of 22 Chinese Hans was analyzed by using ABI 310 genetic analyzer. Results: The DNA sequences of exon 1 of Chinese MBP gene were acquired. The allele frequencies of the codon 54 of the MBP gene (MBP-54) of 5 Chinese nationalities were 0. 181 (Hans), 0. 128(Uygurs), 0. 181(Mongols), 0. 179(Tibetans) and 0. 181(Yis). The allele distribution for MBP-54 mutation of 5 Chinese nationalities was in good agreement with Hardy-Weinberg equilibrium. Compared with the Hans, Uygurs had a lower MBP-54 mutation rate. There were no differences in the allele frequencies between the chronic hepatitis B patients and health controls in Chinese Hans. The mutations of the codons 52 and 57 were not detected in this study. Conclusion: A higher prevalence of MBP-54 mutation was found in 5 Chinese nationalities, MBP-54 mutation was not associated with the persistence of hepatitis B.
出处
《中华医学遗传学杂志》
EI
CAS
CSCD
2001年第3期202-205,共4页
Chinese Journal of Medical Genetics
基金
国家自然科学基金!(39970 683)
解放军"九.五"军队医药卫生科研青年基金!(98Q1 0 3)&&
