Multiple isoforms excluding normal RhD mRNA detected in Rh blood group Del phenotype with RHD 1227A allele
Multiple isoforms excluding normal RhD mRNA detected in Rh blood group Del phenotype with RHD 1227A allele
复制标题
在具有 RHD 1227A 等位基因的 Rh 血型 Del 表型中检测到除正常 RhD mRNA 之外的多种亚型
DOI：
10.1016/j.transci.2005.10.001
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发表时间：
2006-04-01
影响因子：
1.9
通讯作者：
Zhou, YY
中科院分区：
文献类型：
--
作者：
Shao, CP;Xiong, W;Zhou, YY
通过测序分析RhD 1227A等位基因的rh阳性表型和D-el表型的RhD mRNA。结果，分别在rh阳性和D-el中检测到5个和6个转录本。其中四个在rh阳性和D-el之间有相同的序列。这些转录本是外显子9，外显子8和9，外显子7和9，外显子7-9剪接，与正常RhD mRNA相比，在rh阳性个体中检测到，而在D-el个体中没有检测到。出乎意料的是，在D-el个体中发现了两个额外的转录本。它的外显子9或外显子8-9被剪接掉，但有趣的是，它们都具有RHD内含子7的170 bp片段。我们可以得出结论，在具有RhD 1227A等位基因的D，j个体中不存在正常的RhD蛋白，因为由于外显子9末端的沉默突变，该外显子9总是被剪接掉。在正常rh阳性个体中也检测到不含外显子9的转录本，并通过特异性反转录PCR （RT-PCR）系统进一步证实。(c) 2006 Elsevier Ltd.版权所有。
The RhD mRNA was analyzed in both Rh-positive and D-el phenotypes with RHD 1227A allele through sequencing. As a result, five and six transcripts were detected in Rh-positive and D-el, respectively. Four of them have identical sequences between Rh-positive and D-el. Those are the transcripts with exon 9, exerts 8 and 9, exons 7 and 9, and exons 7-9 spliced out compared normal RhD mRNA that was detected in Rh-positive but not in D-el individuals. Unexpectedly, two additional transcripts were found in D-el individuals. Its exon 9 or exons 8-9 were spliced out, but interestingly both possess a 170 bp segment of sequence from intron 7 of RHD. We may Conclude that a normal RhD protein does not exist in a D,j individual with RHD 1227A allele since the exon 9 was always spliced out due to the silent mutation at the end of exon 9. The transcripts without exon 9 was also detected in the normal Rh-positive individual and further confirmed by a specific reverse-transcription PCR (RT-PCR) system. (c) 2006 Elsevier Ltd. All rights reserved.