Comprehensive analysis of RHD splicing transcripts reveals the molecular basis for the weak anti-D reactivity of Del -red blood cells

Transfusion Medicine
D-P ChenC-P Tseng

Abstract

Of the Rh blood type, Del is a rare variant that elicits the weakest anti-D reactivity. In this study, we revisit the genetic changes of Del allele and characterise the RHD splicing transcripts to realise the molecular basis of Del formation in the Taiwanese population. The RHD exons from Del and D-positive individuals were amplified by polymerase chain reaction (PCR) using different primer pairs followed by sequencing analyses. In addition, full-length RHD transcripts were reversed transcribed and amplified by nested-PCR. The type and frequency of the RHD splicing transcripts were analysed after sequencing the PCR products that were subcloned into a cloning vector. All Del individuals had a characteristic 1227G>A mutation. No deletion of the exon sequences was found. At least nine types of RHD splicing transcripts including exons 7/8/9 deletion, 7/9 deletion, 8/9 deletion, 9 deletion, 2/3/7/9 deletion, 2/3/7/8/9 deletion, exons 7/8/9 deletion with replacement of exon 3 with RHCE exon 3, exon 9 deletion with cryptic insertion of 170 bp of intron 7 and exons 7/8/9 deletion with cryptic insertion of 117 bp of intron 3 were identified in the Del -RBC. These aberrant splicing transcripts led to production of frame shift or truncate...Continue Reading

References

Jul 15, 1997·The Journal of Clinical Investigation·H OkudaE Kajii
Sep 24, 1998·Vox Sanguinis·C F SunW T Wang
Dec 10, 1998·The New England Journal of Medicine·J M Bowman
Aug 10, 2001·BMC Genetics·F F WagnerW A Flegel
Mar 21, 2002·Blood·Franz F Wagner, Willy A Flegel
Aug 1, 2002·Blood·Lung-Chih YuMarie Lin
Apr 12, 2005·Transfusion·Thomas WagnerTobias J Legler
Apr 12, 2005·Transfusion·Christoph GassnerEduard K Petershofen
Sep 27, 2005·Transfusion·Hiroyasu YasudaYoshihide Ishikawa
Jan 2, 2007·Translational Research : the Journal of Laboratory and Clinical Medicine·Yu-Fen YangTsun-Mei Lin
Mar 2, 2010·Biochimica Et Biophysica Acta·Hsiang-Chun LiuTsun-Mei Lin
May 17, 2011·Transfusion·Grethe Risum KrogMorten Hanefeld Dziegiel
Aug 8, 2013·Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur̈ Transfusionsmedizin Und Immunham̈atologie·Franz F Wagner

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