The novel RHD c.325A>G single nucleotide variation found in Argentineans leads to a partial D phenotype.

Autor: Mufarrege, Nicolás, Trucco Boggione, Carolina, Puppo, Mónica, Ensinck, Alejandra, Príncipi, Cintia, Brajovich, Melina Luján, Mattaloni, Stella, Biondi, Claudia, Kuperman, Silvina, Cotorruelo, Carlos
Předmět:
Zdroj: Transfusion; Nov2020, Vol. 60 Issue 11, pE43-E44, 2p
Abstrakt: Out of the 55 antigens in the Rh blood group system, D is the most immunogenic and important in clinical practice because of being potentially involved in hemolytic transfusion reactions and hemolytic disease of the fetus and newborn. Altered expression of the D antigen arises mostly from variant alleles such as I weak D i and I partial D i .1,2 Here we reported a new I RHD i allele associated in I cis i with I RHCE*Ce i found in donors from the central region of Argentina. While the already-reported five DFR variants result from hybrid structures involving I RHD i Exon 4 (and also Exon 3 in DFR-5),1,2 a point mutation in I RHD i Exon 2 is responsible for the new allele described in this work. [Extracted from the article]
Databáze: Complementary Index