Del型RHD基因外显子区及启动子区多态性检测

发布时间：2018-10-09 11:53

【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GA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。
[Abstract]:Objective to detect the polymorphism in the promoter region of Del type RHD gene. Methods 10 exons of RHD gene were amplified and sequenced in 32 Del type samples, 4 polymorphic loci in the promoter region of RHD gene -1-1 246 bp were detected, and 3-1138 of RHD gene promoter region were amplified and sequenced. Results all 32 samples of Del type carried a complete RHD gene, all of which were GA mutations at RHD gene 1227, and 4 polymorphic loci were detected in the promoter region of RHD gene 3 1138. No mutation sites were found in all the samples. Conclusion the sequence of promoter region of Del type RHD gene is consistent with that of normal gene, and no new mutation site has been found, suggesting that the weak expression of Del type D antigen is independent of promoter region mutation.
【作者单位】： 西安交通大学医学部基础医学院病原生物学与免疫学系;西安交通大学第二附属医院输血科;陕西省血液中心;
【分类号】：R440
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本文编号：2259239