【作者】 张莹；

【导师】 宣世纬； 王沥； 金锋；

【作者基本信息】 东北农业大学 ， 预防兽医学， 2002， 硕士

【摘要】 人体组织中存在两种独特的α（1，2）-岩藻糖转移酶。H基因（FUT1）编码的α（1，2）-岩藻糖转移酶（H酶）调节ABO（H）抗原主要在红细胞膜上表达。Se基因（FUT2）编码的分泌型α（1，2）-岩藻糖转移酶（Se酶），调节ABO（H）抗原主要表达在上皮细胞和体液中。 1995年Kelly等克隆了FUT2基因后，对FUT2基因的分子分析指出，该基因蛋白编码区内单个碱基的突变（G428A，A385T，C571T，C628T，G849A，C658T）产生的无功能等位基因（se）导致Se酶活性丧失。这些等位基因的分布具有地域特异性和种族特异性。 本研究随机采取山东汉族和内蒙古蒙古族两个人群共180个个体的血液样本，提取基因组DNA。参考Kelly等发表的序列设计引物，扩增FUT2基因蛋白编码区片段（1071bp），进行RFLP分析。结果在两个人群中均发现了一个携带G849A点突变的个体，该点突变产生的无功能等位基因se⁸⁴⁹在两个人群中的频率均是0.55％。在两个人群中均未检测到携带C571T、C628T、C658T和A375G点突变的个体。综合目前已发表文献报道的其它地区人群FUT2等位基因的分布状况，我们对世界三大人群FUT2基因的多态性进行了整理分析，并对FUT2基因特定点突变的可能的起源及形成进行了讨论。更多还原

【Abstract】 It has been demonstrated that two distinct a (l,2)-fucosyltransferases are present in human tissues. One is the //gene (FUT7) - encoded a (1,2) -fucosyltransferase (H enzyme) that regulates expression of ABH antigens in erythrocytes. The other is the Secretor gene (FUT2) - encoded secrelor type a (l,2)-fucosyltransferase (Se enzyme) that regulates expression and secretion of ABH antigens in the epithelial cell of glands and body fluids.After cloning the FUT2 gene by Kelly et al,molecular analyses of FUT2 indicated the non-function alleles (se) which were generated by single base mutation (G428A A385T C57IT C628T,G849A and C658T) caused Se enzyme deficient. The distribution of these alleles is region specific and race specific.In the present study,blood samples of 90 unrelated Han Chinese individuals from Shandong Province and 90 Mongols from Inner Mongolia were collected randomly and genomic DNA was extracted. According to the primers sequences,which were published by Kelly,a 1071-bp fragment containing the enzyme coding region of FUT2 gene was amplified by PCR. The products were used in RFLP analysis. We found the G849A nonsense mutation that was responsible for the Se enzyme inactivation in Shandong Han Chinese and Mongolian of Inner Mongolia individuals was in the same frequency,0.55%. We did not find the C57 1T C628T.. C658T or A375G point mutations in both populations. We summed up and analyzed the polymorphisms of the FUT2 gene of three groups in the world with references to other published data. Further discussion was made for the hypotheses of origin and generation of special point mutations of FUT2 gene.Master Candidate:Zhang Ying Major:Microbiology and Immunology Supervisor:prof. Xuan Shiwei prof. Wang Li prof. Jin Feng更多还原