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Blood, 1 February 2002, Vol. 99, No. 3, pp. 1079-1081

BRIEF REPORT

Partial deletion in the JK locus causing a Jknull phenotype

Nicole Lucien, Jacques Chiaroni, Jean-Pierre Cartron, and Pascal Bailly

From INSERM-U76, Institut National de la Transfusion Sanguine, Paris, France, and EFS Alpes-Provence, Marseille, France.

A new alteration of the blood group JK*A allele was identified in a Jknull patient from Tunisia with an allo-anti-Jk3 in her serum. Southern blot and exon mapping analyses revealed an internal deletion within the Kidd (JK) locus encompassing exons 4 and 5. Sequence analysis of the Jk transcript showed that exons 4 and 5 were missing but were replaced by a 136-base-pair (bp) intron 3 sequence located 315 bp and 179 bp upstream from exon 4. This sequence is flanked by typical donor-acceptor cryptic splice sites used in the mutant but not in the normal JK gene. Because the translation initiation codon is located in exon 4, the Jk protein is not produced.

© 2002 by The American Society of Hematology.
 

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  Copyright © 2002 by American Society of Hematology         Online ISSN: 1528-0020