Human RhDel Is Caused by a Deletion of 1,013 bp Between Introns 8 and 9 Including Exon 9 of RHD Gene

A new DEL variant caused by exon 8 deletion

“…10,[13][14][15] DEL phenotypes were first considered in this case study because they have been associated with six different mutations 5 among which were the complete deletion of exon 9 and adjacent introns found in a Taiwanese donor. 16 This mutation is heavily disputed. 1 In their recent article, Körmöczi and associates 5 suggested a molecular reevaluation of the RHD (delEx9), because the RHD(K409K) allele was found to be exclusive in Taiwanese.…”

“…Total RNA was isolated from reticulocyte-enriched buffy coat with Trizol, and poly(A) RNA was isolated by use of Oligotex (Qiagen). Reverse transcription-polymerase chain reaction (PCR) was performed with an oligo(dT) [12][13][14][15][16][17][18] (Invitrogen, Carlsbad, CA). Complementary DNA was amplified with primer 397 (5′-cacaggATGAGCTCTAAG TAC-3′) located at the 5′ end of RHD/RHCE and 625 (5′taaatggtgagattctcctc-3′) located in RHD 3′ noncoding sequence.…”

Non‐invasive foetal RHD genotyping via real‐time PCR of foetal DNA from Chinese RhD‐negative maternal plasma

“…In European populations, the frequency of RhDel was 1 : 3030, and RHD1227A allele with a frequency of 1 : 9090 [23]. To date, RhDel phenotypes have been traced to more than seven distinct alleles: RHDIVS1+1G>A, RHD1227A, RHD885T, RHDIVS3+1G>A, RHDdel1013bp, RHD(X418L) and RHDIVS5-38del4 [24][25][26][27][28].…”

Overview of molecular methods in immunohematology

“…11 Approximately one-third of D-Japanese have an intact but inactive RHD, 12 and as many as 10 percent of Japanese donors who had RBCs nonreactive with anti-D have the Del phenotype. 13 Approximately one-quarter of D-African Americans have an RHD pseudogene (RHDY), which does not encode the D antigen, 14 and many others have a hybrid RHD-CE-D gene (e.g., the r'S phenotype). To predict the RhD antigen type by DNA analysis requires probing for multiple singlenucleotide polymorphisms.…”