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. 2025 Jun 13;65(8):E31-E33.
doi: 10.1111/trf.18304. Online ahead of print.

A Novel Null Allele of the RAPH Blood Group System

Lea Wörner  1 , Gabi Rink  1 , Annette Stürtzel  2 , Sina Rothenberger-Mürb  2 , Susanne Seyboth  2 , Judith Küthe-Rieger  2 , Albrecht Leo  3 , Peter Bugert  1
Affiliations

A Novel Null Allele of the RAPH Blood Group System

Lea Wörner et al. Transfusion. .
No abstract available

Keywords: CD151; MER2; RAPH (ISBT025) blood group system; blood group panel sequencing.

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Conflict of interest statement

The authors have disclosed no conflict of interest.

Figures

FIGURE 1
FIGURE 1
Identification of the novel CD151 c.346C>T mutation in the patient (Pat.). (A) Panel sequencing showed a homozygous SNV in CD151 exon 5 at position c.346 (hg38 chromosome 11: G.836,838) with T in 263 of 265 reads (99.2%). The C>T change results in a premature stop codon (CAG>TAG; p.Gln116Ter). (B) PCR‐SSP confirmed the patient's genotype CD151 c.346 T and unrelated blood donors (1–7) were negative for the T variant.
See this image and copyright information in PMC

References

    1. Karamatic Crew V, Burton N, Kagan A, et al. CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin. Blood. 2004;104:2217–2223. - PubMed
    1. ISBT allele table for RAPH: v5.0 30‐OCT‐2020.
    1. Rink G, Scharberg EA, Bugert P. PCR with sequence‐specific primers for typing of diallelic blood groups. Methods Mol Biol. 2015;1310:71–81. - PubMed
    1. SNP database (dbSNP). Accessed November 12, 2024 https://www.ncbi.nlm.nih.gov/snp
    1. Genome aggregation database (gnomAD). Accessed November 12, 2024 https://gnomad.broadinstitute.org

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