Premium
Three missense mutations found in the KEL gene lead to K mod or K 0 red blood cell phenotypes
Author(s) -
Matteocci Antonella,
Mancuso Tommaso,
Moscetti Alessandra,
Collaretti Angela,
Castagna Katiuscia,
Spaccino Cinzia,
Hutchinson Tyler,
Grammatico Paola,
Pierelli Luca
Publication year - 2014
Publication title -
transfusion
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.045
H-Index - 132
eISSN - 1537-2995
pISSN - 0041-1132
DOI - 10.1111/trf.12748
Subject(s) - missense mutation , phenotype , genotype , allele , microbiology and biotechnology , biology , genetics , typing , gene , antigen , mutation
Background The KEL gene is highly polymorphic. It presents two major alleles, KEL 1 ( K ) and KEL 2 (k), but a variety of mutations give rise to weakened ( K mod phenotype) or lack ( K 0 phenotype) of K ell antigen expression. Recently, the use of advanced DNA ‐based techniques has greatly increased our understanding of the K ell blood group system. Study Design and Methods Three blood samples that had shown discordant results between the serologic and molecular typing for k were investigated by DNA sequencing. Two of these samples were also subjected to studies of adsorption and elution. Results After sequencing the whole KEL gene, we found three new missense mutations: c.455 A > G (p. T yr152 C ys) at E xon 5, c.2111 A > C (p. P ro704 H is) at E xon 19, and c.1726 G > C (p. G ly576 A rg) at E xon 16. So far, no known clinical implications are associated with these mutations. Further investigation by adsorption and elution methods has defined that c.455 A > G and c.1726 G > C resulted in K 0 phenotype, while c.2111 A > C encoded a K mod phenotype. Conclusion Molecular investigation is an important complement to routine serologic analyses of K ell antigens. Discrepancies between genotype and phenotype may reveal the presence of K mod or K 0 phenotypes. Our description of three new KEL alleles suggests a role for a wider diagnostic approach to typing of the K ell system.