Three missense mutations found in the KEL gene lead to Kmod or K0 red blood cell phenotypes. Issue 12 (20th July 2014)

• Record Type: Journal Article
• Authors: Matteocci, Antonella; Mancuso, Tommaso; Moscetti, Alessandra; Collaretti, Angela; Castagna, Katiuscia; Spaccino, Cinzia; Hutchinson, Tyler; Grammatico, Paola; Pierelli, Luca
• Is Part Of: Transfusion. Volume 54:Issue 12(2014)
• Page Start: 3216
• Page End: 3221
• Publication Date: 2014-07-20
• Subjects: Hematology -- Periodicals; Blood -- Transfusion -- Periodicals; Blood Group Antigens -- Periodicals; Blood Preservation -- Periodicals; Blood Transfusion -- Periodicals; 615
• DOI: 10.1111/trf.12748
• Languages: English
• ISSNs: 0041-1132

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="trf12748-sec-0001" sec-type="section"> <title>Background</title> <p>The <italic>KEL</italic> gene is highly polymorphic. It presents two major alleles, <italic>KEL1</italic>(K) and <italic>KEL2</italic>(k), but a variety of mutations give rise to weakened (K<sub>mod</sub> phenotype) or lack (K<sub>0</sub> phenotype) of Kell antigen expression. Recently, the use of advanced DNA‐based techniques has greatly increased our understanding of the Kell blood group system.</p> </sec> <sec id="trf12748-sec-0002" sec-type="section"> <title>Study Design and Methods</title> <p>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.</p> </sec> <sec id="trf12748-sec-0003" sec-type="section"> <title>Results</title> <p>After sequencing the whole <italic>KEL</italic> gene, we found three new missense mutations: c.455A>G (p.Tyr152Cys) at Exon 5, c.2111A>C (p.Pro704His) at Exon 19, and c.1726G>C (p.Gly576Arg) at Exon 16. So far, no known clinical implications are associated with these mutations. Further investigation by adsorption and elution methods has defined that c.455A>G and c.1726G>C resulted in K<sub>0</sub> phenotype, while c.2111A>C encoded a K<sub>mod</sub> phenotype.</p> </sec> <sec id="trf12748-sec-0004" sec-type="section"> <title>Conclusion</title> <p>Molecular investigation is an important complement to routine serologic analyses of Kell antigens. Discrepancies between genotype and phenotype may reveal the presence of K<sub>mod</sub> or K<sub>0</sub> phenotypes. Our description of three new <italic>KEL</italic> alleles suggests a role for a wider diagnostic approach to typing of the Kell system.</p> </sec> </abstract>