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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 detect the polymorphism of Del RHD gene promoter region. Methods Ten exons in RHD gene coding region of 32 cases of Del type were amplified and sequenced. Four polymorphic sites within -1 to 246 bp of RHD gene promoter region were detected. The RHD gene Promoter region + 3--1138 was amplified and sequenced. Results 32 samples of Del type all carried the complete RHD gene, and all of them were mutations of G> A at position 1227 of RHD gene. Four polymorphic sites were detected in all the samples. The RHD gene promoter region + 3--1138 No mutation sites were found by sequencing. Conclusions The promoter sequence of Del RHD gene is consistent with that of normal gene. No new mutation sites were found, suggesting that the weak expression of Del D antigen is not related to the promoter mutation.