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- Title
The molecular basis of the Kidd blood group polymorphism and its lack of association with type 1 diabetes susceptibility.
- Authors
Olivès, B; Merriman, M; Bailly, P; Bain, S; Barnett, A; Todd, J; Cartron, J P; Merriman, T
- 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.
- Publication
Human molecular genetics, 1997, Vol 6, Issue 7, p1017
- ISSN
0964-6906
- Publication type
Journal Article
- DOI
10.1093/hmg/6.7.1017