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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.

Original publication

DOI

10.1093/hmg/6.7.1017

Type

Journal article

Journal

Human molecular genetics

Publication Date

07/1997

Volume

6

Pages

1017 - 1020

Addresses

INSERM U76, GIP-INTS, Paris, France.

Keywords

Humans, Diabetes Mellitus, Type 1, Genetic Predisposition to Disease, Deoxyribonucleases, Type II Site-Specific, Kidd Blood-Group System, Cloning, Molecular, Polymerase Chain Reaction, Sequence Analysis, DNA, Polymorphism, Genetic, Polymorphism, Restriction Fragment Length, Alleles, Adolescent, Adult, Genetic Linkage