title: Partial deletion in the JK locus causing a Jk(null) phenotype.
abstract: A new alteration of the blood group JK*A allele was identified in a Jk(null) 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.
authors.affiliation: INSERM-U76, Institut National de la Transfusion Sanguine, 6 rue Alexandre Cabanel, 75015-Paris, France.
authors.forename: Nicole
authors.initials: N
authors.lastname: Lucien
authors.forename: Jacques
authors.initials: J
authors.lastname: Chiaroni
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Cartron
authors.forename: Pascal
authors.initials: P
authors.lastname: Bailly
mesh_terms: D001483:Base Sequence; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D006801:Humans; D007667:Kidd Blood-Group System / Q000235:genetics*; D008969:Molecular Sequence Data; D010641:Phenotype; D022821:RNA Splice Sites; D017384:Sequence Deletion; D014416:Tunisia
chemical_list: D007667:Kidd Blood-Group System; D022821:RNA Splice Sites