JK null alleles identified from Japanese individuals with Jk(a−b−) phenotype

Vox Sang. 2014 May;106(4):382-4. doi: 10.1111/vox.12117.

Abstract

The Kidd blood group system consists of three common phenotypes: Jk(a+b−), Jk(a−b+) and Jk(a+b+), and one rare phenotype, Jk(a−b−). Jka/Jkb polymorphism is associated with c.838G>A (p.Asp280Asn) in exon 9 of the JK (SLC14A1) gene, and the corresponding alleles are named JK*01 and JK*02. The rare phenotype Jk(a−b−) was first found in a Filipina of Spanish and Chinese ancestry, and to date, several JK null alleles responsible for the Jk(a−b−) phenotype have been reported. We report seven novel JK null alleles, 4 with a JK*01 background and 3 with a JK*02 background, identified from Jk(a−b−) Japanese.

MeSH terms

  • Alleles
  • Exons
  • Genetic Association Studies
  • Homozygote
  • Humans
  • Japan
  • Kidd Blood-Group System / genetics*
  • Membrane Transport Proteins / genetics*
  • Phenotype
  • Polymorphism, Single Nucleotide
  • Sequence Analysis, DNA
  • Urea Transporters

Substances

  • Kidd Blood-Group System
  • Membrane Transport Proteins