title: Molecular genetic analysis of the Jk(a-b-) phenotype in Chinese: A novel silent recessive JK allele.
abstract: The Jk(a-b-) phenotype, referred to as Jknull, is rare in most populations. This blood type is characterized by the absence of Kidd glycoprotein on the surface of red blood cells (RBCs) and moderately reduced ability to concentrate urine. The molecular basis for Jknull phenotype includes splice-site mutations, missense mutations, and a partial gene deletion in the JK(SLC14A1) gene that encodes the human urea transporter protein. In this study, we have analyzed 10 Chinese Jknull samples to determine their molecular bases. In addition to the well known Polynesian Jknull allele, three Jknull alleles were detected including one novel Jknull allele: JKA (130A, 220G).
authors.affiliation: Fujian Provincial Blood Center, Fuzhou 350004, Fujian, China. Electronic address: za_guo@163.com.cn.
authors.forename: Ai
authors.initials: A
authors.lastname: Zhang
authors.affiliation: Fujian Provincial Blood Center, Fuzhou 350004, Fujian, China; Department of Transfusion Medicine, Fujian Medical University, Fuzhou 350004, Fujian, China. Electronic address: baisui0@163.com.cn.
authors.forename: Quan
authors.initials: Q
authors.lastname: Chi
authors.affiliation: Fujian Provincial Blood Center, Fuzhou 350004, Fujian, China.
authors.forename: Hongkeng
authors.initials: H
authors.lastname: Lin
authors.affiliation: Fujian Provincial Blood Center, Fuzhou 350004, Fujian, China.
authors.forename: Yimin
authors.initials: Y
authors.lastname: She
mesh_terms: D000483:Alleles; D044466:Asian People; D002681:China; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007667:Kidd Blood-Group System / Q000235:genetics*; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D000096982:Urea Transporters
chemical_list: D007667:Kidd Blood-Group System; D026901:Membrane Transport Proteins; D000096982:Urea Transporters
keywords: Jk(a−b−) phenotype; Kidd blood group; SLC14A1 gene