The molecular basis of the Kidd blood group polymorphism and its lack of association with type 1 diabetes susceptibility

Open Access

1 July 1997

journal article
research article
Published by Oxford University Press (OUP) in Human Molecular Genetics

Vol. 6 (7) , 1017-1020
https://doi.org/10.1093/hmg/6.7.1017

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 MnΛ restriction fragment length polymorphism (RFLP). Using the MnΛ 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.

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