Sequencing interpretation: the molecular presence of only adenine at the polymorphic site that is indicative of the kidd (jk) antigen would normally represent a homozygous jkb individual1, as was reported on hea beadchip carrier heae0954_1.However, the individual is also homozygous for a polymorphism of the intron 5 splice acceptor site (ivs5as, isbt=jk*02n.01, also known as c.342-1g>a) that silences the expression of the jkb antigen.The silencing of jkb, as first reported by lucien et al.2, would leave no expression of the jkb antigen on the surface of the erythrocyte.Jknull is listed as a limitation of the precisetype¿ hea beadchip test as listed in the package insert (part number 190-20210).
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