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Molecular basis for the high‐incidence antigens of the Kell blood group system
Author(s) -
Lee S.,
Naime D.S.,
Reid M.E.,
Redman C.M.
Publication year - 1997
Publication title -
transfusion
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.045
H-Index - 132
eISSN - 1537-2995
pISSN - 0041-1132
DOI - 10.1046/j.1537-2995.1997.37111298088039.x
Subject(s) - point mutation , allele , antigen , phenotype , genetics , mutation , biology , arginine , incidence (geometry) , gene , amino acid , microbiology and biotechnology , physics , optics
BACKGROUND: The Kell blood group system is complex, containing at least 21 antigens. Some antigens are organized in five allelic sets; other, mostly high‐incidence antigens, may be independently expressed. In this study, the molecular basis of five high‐incidence antigens in the Kell system are described. STUDY DESIGN AND METHODS: Genomic DNA sequences from K:‐12 (KEL:‐12), K:‐18 (KEL:‐18), K:‐19 (KEL:‐19), K:‐22 (KEL:‐ 22), and TOU‐(KEL:‐26) persons were sequenced and compared to those from persons with a common Kell phenotype. RESULTS: The various Kell phenotypes are due to point mutations that encode amino acid substitutions. In KEL:‐18, two mutations in the same codon were noted. In the various phenotypes, the following KEL mutations were noted: in KEL:‐12: A1763G, His548Arg; in KEL:‐18: C508T and G509A, Arg130Trp and Arg130Gln; in KEL:‐19: G1595A, Arg492Gln; in KEL:‐22: C1085T, Ala322Val; and in TOU‐:G1337A, Arg406Gln. A son of one of the two people with the TOU‐phenotype was heterozygous, and he also had the G1337A mutation. CONCLUSION: The high‐incidence antigens of the Kell blood group system are characterized by point mutations leading to amino acid substitutions. The KEL:‐18 phenotype could be due to either of two point mutations in the same codon replacing arginine with tryptophan or glutamine. TOU was confirmed as a Kell system antigen, and the inheritance of the mutation was demonstrated.