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首页> 外文期刊>Transfusion and apheresis science: official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis >Multiple isoforms excluding normal RhD mRNA detected in Rh blood group Del phenotype with RHD 1227A allele.
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Multiple isoforms excluding normal RhD mRNA detected in Rh blood group Del phenotype with RHD 1227A allele.

机译：在RHD 1227A等位基因的Rh血型Del表型中检测到多个正常RhD mRNA以外的同工型。

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摘要

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, exons 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(el) 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.
机译：通过测序，以RHD 1227A等位基因分析了Rh阳性和D（el）表型的RhD mRNA。结果，在Rh阳性和D（el）中分别检测到五个和六个转录物。其中四个在Rh阳性和D（el）之间具有相同的序列。这些是具有外显子9，外显子8和9，外显子7和9以及外显子7-9的转录本，它们与在Rh阳性但在D（el）个体中未检测到的正常RhD mRNA进行了比较。出乎意料的是，在D（el）个人中发现了另外两个转录本。剪接其外显子9或外显子8-9，但是有趣的是，它们都具有来自RHD的内含子7的170bp的片段。我们可以得出结论，在具有RHD 1227A等位基因的D（el）个体中不存在正常的RhD蛋白，因为外显子9总是由于外显子9末端的沉默突变而被剪接。还检测到没有外显子9的转录本在正常的Rh阳性个体中可以检测到，并通过特定的逆转录PCR（RT-PCR）系统进一步证实。

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