【摘要】：目的檢測Del型RHD基因啟動子區(qū)是否存在多態(tài)性。方法對32例Del型樣本RHD基因編碼區(qū)10個外顯子擴(kuò)增并測序;對樣本RHD基因啟動子區(qū)-1--1 246 bp內(nèi)的4個多態(tài)性位點(diǎn)進(jìn)行檢測;對RHD基因啟動子區(qū)+3--1138擴(kuò)增并測序。結(jié)果 32例Del型樣本均攜帶完整的RHD基因,并且均為RHD基因1227位點(diǎn)GA的突變;所有樣本均檢測到4個多態(tài)性位點(diǎn);RHD基因啟動子區(qū)+3--1138測序未發(fā)現(xiàn)突變位點(diǎn)。結(jié)論 Del型RHD基因啟動子區(qū)序列與正�；蛞恢�,未發(fā)現(xiàn)新的突變位點(diǎn),提示Del型D抗原的弱表達(dá)與啟動子區(qū)突變無關(guān)。
[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.
【作者單位】： 西安交通大學(xué)醫(yī)學(xué)部基礎(chǔ)醫(yī)學(xué)院病原生物學(xué)與免疫學(xué)系;西安交通大學(xué)第二附屬醫(yī)院輸血科;陜西省血液中心;
【分類號】：R440
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本文編號：2259239