title: The molecular basis of the Kidd blood group polymorphism and its lack of association with type 1 diabetes susceptibility.
abstract: The Kidd blood group locus encodes a urea transporter which is expressed on human red cells and in the kidney. This gene is located on chromosome 18q12, and evidence for linkage and association with type 1 diabetes mellitus has been reported. To investigate this further, the genetic basis for the blood group Jk(a)/Jk(b) polymorphism was first determined by sequencing reverse-transcribed reticulocyte RNAs from Jk(a+b-) and Jk(a-b+) donors. The Jk(a)/Jk(b) polymorphism was caused by a transition (G838A), resulting in a Asp280Asn amino acid substitution and an MnlI restriction fragment length polymorphism (RFLP). Using the MnlI RFLP, we found that the Jk(a)/Jk(b) polymorphism was not in linkage disequilibrium with type 1 diabetes in 228 multiplex UK and US families tested.
authors.affiliation: INSERM U76, GIP-INTS, Paris, France.
authors.forename: B
authors.initials: B
authors.lastname: Olivès
authors.forename: M
authors.initials: M
authors.lastname: Merriman
authors.forename: P
authors.initials: P
authors.lastname: Bailly
authors.forename: S
authors.initials: S
authors.lastname: Bain
authors.forename: A
authors.initials: A
authors.lastname: Barnett
authors.forename: J
authors.initials: J
authors.lastname: Todd
authors.forename: J P
authors.initials: JP
authors.lastname: Cartron
authors.forename: T
authors.initials: T
authors.lastname: Merriman
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D003001:Cloning, Molecular; D015252:Deoxyribonucleases, Type II Site-Specific / Q000235:genetics / Q000378:metabolism; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D006801:Humans; D007667:Kidd Blood-Group System / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D017422:Sequence Analysis, DNA
chemical_list: D007667:Kidd Blood-Group System; C052155:endodeoxyribonuclease MnlI; D015252:Deoxyribonucleases, Type II Site-Specific