Del型RHD基因外显子区及启动子区多态性检测  

Polymorphism detection of the exons and promoter region of Del phenotype-RHD gene

作　　者：姜侠 韩梅宁[2] 徐华[3] 季延红 

机构地区：[1]西安交通大学医学部基础医学院病原生物学与免疫学系,陕西西安710061 [2]西安交通大学第二附属医院输血科 [3]陕西省血液中心

出　　处：《中国输血杂志》2017年第10期1132-1135,共4页Chinese Journal of Blood Transfusion

摘　　要：目的检测Del型RHD基因启动子区是否存在多态性。方法对32例Del型样本RHD基因编码区10个外显子扩增并测序;对样本RHD基因启动子区-1--1 246 bp内的4个多态性位点进行检测;对RHD基因启动子区+3--1138扩增并测序。结果 32例Del型样本均携带完整的RHD基因,并且均为RHD基因1227位点G>A的突变;所有样本均检测到4个多态性位点;RHD基因启动子区+3--1138测序未发现突变位点。结论 Del型RHD基因启动子区序列与正常基因一致,未发现新的突变位点,提示Del型D抗原的弱表达与启动子区突变无关。Objective To investigate whether there is a polymorphism in the promoter region of Del phenotype-RHD gene. Methods Ten exons of RHD gene coding region,the four polymorphic sites from-1 to-1 246 bp and the region from＋3 to-1 138 bp within the promoter region of RHD gene were amplified and sequenced,respectively. Results All 32 Del phenotype-samples had the complete RHD gene,and carrying G〉A mutation in the 1227 site of the RHD gene. Four polymorphic sites were detected in all the samples. No mutation sites were detected in the region from ＋3 to-1 138 bp within the promoter region of RHD gene. Conclusion No new mutation sites were found in the promoter region of Del-type RHD gene,which was consistent with the normal gene. The results suggested that the weak expression of Del phenotype-D antigen was independent of the mutation in the promoter region.

关 键 词：Del型 RHD基因 启动子 多态性 聚合酶连反应-序列特异性引物 

分 类 号：R457.11[医药卫生—治疗学]