title: JK null alleles identified from Japanese individuals with Jk(a−b−) phenotype.
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.
authors.forename: T
authors.initials: T
authors.lastname: Onodera
authors.forename: K
authors.initials: K
authors.lastname: Sasaki
authors.forename: H
authors.initials: H
authors.lastname: Tsuneyama
authors.forename: K
authors.initials: K
authors.lastname: Isa
authors.forename: K
authors.initials: K
authors.lastname: Ogasawara
authors.forename: M
authors.initials: M
authors.lastname: Satake
authors.forename: K
authors.initials: K
authors.lastname: Tadokoro
authors.forename: M
authors.initials: M
authors.lastname: Uchikawa
mesh_terms: D000483:Alleles; D005091:Exons; D056726:Genetic Association Studies; D006720:Homozygote; D006801:Humans; D007564:Japan; D007667:Kidd Blood-Group System / Q000235:genetics*; D026901:Membrane Transport Proteins / Q000235:genetics*; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA; D000096982:Urea Transporters
chemical_list: D007667:Kidd Blood-Group System; D026901:Membrane Transport Proteins; D000096982:Urea Transporters