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- Title
RHCE*01 48G>C, 366del allele with silenced RHCE*ce expression.
- Authors
Barrault, Aurélie; Floch, Aline; Devaux, Laurent; Gaillard, Kévin; Muralitharan, Vintuya; Pirenne, France; Tournamille, Christophe
- Abstract
This deletion, unknown among the I RHCE i alleles listed by the ISBT, is associated with a frameshift and a premature stop codon in exon 3, leading to a truncated and non-functional Rh protein. A guanine nucleotide deletion at position c.366 was detected in exon 3 leading to a frameshift responsible for a stop codon in position p.124 gl SUMMARY We report a new I RHCE*ce i null allele, I RHCE*ce 48G>C i , I 366del i , according to HGVS nomenclature,5 which was given the provisional ISBT number I RHCE*01N.12 i and Genbank accession no. ISBT lists more than 70 I RHCE*ce i alleles including 11 I RHCE*ce i null alleles.1 These null alleles are due to the existence of various genetic events such as nucleotide insertions or deletions, nonsense mutations, or splice site mutations.
- Subjects
ALLELES; BLOOD groups
- Publication
Transfusion, 2021, Vol 61, Issue 7, pE53
- ISSN
0041-1132
- Publication type
journal article
- DOI
10.1111/trf.16503