Multiple isoforms excluding normal RhD mRNA detected in Rh blood group Del phenotype with RHD 1227A allele

Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis
Chao-Peng ShaoYi-Yan Zhou

Abstract

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.

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Citations

Feb 1, 2011·Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis·Gregory A Denomme
Oct 22, 2010·Transfusion clinique et biologique : journal de la Société française de transfusion sanguine·Chao-Peng ShaoNai-Bao Zhuang
Jun 2, 2010·Clinics in Laboratory Medicine·Geoff DanielsPete Martin
Mar 2, 2010·Biochimica Et Biophysica Acta·Hsiang-Chun LiuTsun-Mei Lin
Apr 15, 2009·Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis·Zhen Li, Chao-Peng Shao
Feb 26, 2013·British Journal of Haematology·Geoff Daniels
Mar 2, 2021·Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis·Ni WangMing Liu

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