FUT1基因座2个点突变对α2-FUT表达影响的重组分析  

Recombination analysis of the effect of two point mutations at FUT1 locus on α2-FUT activity

作　　者：王保捷[1] 丁梅[1] 肖仰哲[1] 李春梅[1] 张核子[1] 卢岩[1] 杨茹虹[2] 

机构地区：[1]中国医科大学法医学系,沈阳110001 [2]大连大学医学院病理生理教研室,116622

出　　处：《中国法医学杂志》1999年第3期135-137,共3页Chinese Journal of Forensic Medicine

摘　　要：探讨H缺乏分泌型个体FUT1基因座2个点突变（T460CG1042A）对基因表达产物α2－FUT活性的影响。应用基因重组技术，分别构建了R含有1个点突变的质粒pRc／CMVFUT1点亚克隆重组子。经转染COS－7细胞后检测发现，重组于pRc／CMV－T460C和pRC／CMV－G1042A表达的α2－FUT活体分别是野生型FUT1基因（pRc／CMV－H）的1．0％和9．3％，免疫组化法也证实了2个重组基因有H抗原的表达。上述2个点突变的协同作用是FUT1基因座表达产物完全失活的原因。We have elucidated the respective effect of two point mutations (T460C and G1042A) at FUT1 locus in H－abscence secretors on the activity of α2－FUT. Using the technique of gene recombination, we subcloned the two point mutations seperately in plasmid pRc/CMV which only has one point mutation. After transfecting COS－7 cells the expression products α2－FUT activity of recombinants pRc/CMV－T460CI and pRc/CMV－ G1042A were 1. 0 % and 9. 3 % of those wild type FUT1 gene respectively. The expression of H antigen in the two recombinant genes was also detected by immunohistochemistry. These results suggested that the cooperation of the two point mutations of FUT1 gene was responsible for the inactivation of α2－FUT1.

关 键 词：FUT1 点突变 α2-FUT 基因重组 

分 类 号：R392.32[医药卫生—免疫学]