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Novel alleles at the JK blood group locus explain the absence of the erythrocyte urea transporter in European families.

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Author

Summary, in English

The Kidd (JK) blood group system is of importance in transfusion medicine. The Jk(null) phenotype is associated with absence of the urea transporter in erythrocytes and moderately reduced ability to concentrate urine. We and others recently reported different molecular alterations in the silenced Jkb-like alleles of Polynesians and Finns, populations with higher Jk(null) frequencies. Here we report novel molecular bases of this phenotype in Caucasians. Blood samples from a Swiss and an English family were investigated by serological methods, urea haemolysis test and JK genotyping. Genomic DNA and JK mRNA were sequenced. Genotyping showed homozygosity for Jka-like alleles. The Swiss Jk(null) alleles deviated from wild-type Jka sequence by a nonsense mutation in exon 7 causing an immediate stop codon (Tyr194stop). The English Jk(null) alleles revealed a genomic 1.6 kilobase pair deletion including exons 4 and 5, the former of which includes the translation start codon. Multiple mRNA splicing variants were detected in reticulocytes but exons 3-5 were absent in all transcripts analysed. Screening for these alleles was negative in random donors. Two novel molecular alterations at the JK locus were defined and a multiplex polymerase chain reaction method for detection of the five known silent Jk alleles was developed to complement JK genotyping in clinical transfusion medicine.

Publishing year

2002

Language

English

Pages

445-453

Publication/Series

British Journal of Haematology

Volume

116

Issue

2

Document type

Journal article

Publisher

Wiley-Blackwell

Topic

  • Hematology

Keywords

  • DNA
  • Sequence Analysis
  • RNA
  • Polymerase Chain Reaction/methods
  • Membrane Glycoproteins/*metabolism
  • Phenotype
  • Kidney Concentrating Ability/*genetics
  • Kidd Blood-Group System/*genetics
  • Jordan
  • Gene Deletion
  • Human
  • Messenger/analysis
  • Erythrocytes/*metabolism
  • England
  • Codon
  • Nonsense
  • Carrier Proteins/*metabolism
  • Alleles

Status

Published

Research group

  • Transfusion Medicine

ISBN/ISSN/Other

  • ISSN: 0007-1048