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Molecular basis of the Kell (K1) phenotype
S Lee, X Wu, M Reid, T Zelinski and C Redman
Lindsley F. Kimball Research Institute of the New York Blood Center.
K1 (K, Kell) is a strong immunogen; its antibodies can cause severe
reactions if incompatible blood is transfused and may cause hemolytic
disease of the newborn in sensitized mothers. K1 is a member of the Kell
blood group system, which is complex, containing over 20 different
antigens. Some of the antigens are organized in allelic pairs of high and
low prevalence whereas others are independently expressed. K1, which is
present in 9% of the population, is antithetical to the high- prevalence K2
(k) antigen. We have determined the molecular basis of the K1/K2
polymorphism by sequencing the 19 exons of the Kell gene (KEL) of a K1/K1
person. Polymerase chain reaction was performed on genomic DNA isolated
from peripheral blood and the amplified products were either directly
sequenced or subcloned and sequenced. Comparisons of K1/K1 and K2/K2 DNA
showed a C to T base substitution in exon 6 that predicts a threonine to
methionine change at amino acid residue 193. This amino acid substitution
occurs at a consensus N-glycosylation site (Asn. X. Thr) and probably
prevents N-glycosylation, leading to a change in phenotype. The C to T
substitution creates a Bsm I restriction enzyme site, which was tested in
42 different samples to confirm that this base change identifies the K1/K1
genotype. This test differentiates genotypes, K1/K1, K2/K2, and the K1/K2
heterozygote and should prove useful in the prenatal diagnosis of
K1-related hemolytic disease of the newborn.
Volume 85,
Issue 4,
pp. 912-916,
02/15/1995
Copyright © 1995 by The American Society of Hematology
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