Genetic mapping studies of familial juvenile hyperuricemic nephropathy on chromosome 16p11-p13

Stacey, Joanna M., Turner, Jeremy J. O., Harding, Brian, Nesbit, M. Andrew, Kotanko, Peter, Lhotta, Karl, Puig, Juan G., Torres, Rosa J. and Thakker, Rajesh V. (2003) Genetic mapping studies of familial juvenile hyperuricemic nephropathy on chromosome 16p11-p13. Journal of Clinical Endocrinology & Metabolism, 88 (1). pp. 464-470. ISSN 1945-7197

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Abstract

Familial juvenile hyperuricemic nephropathy (FJHN), which is inherited as an autosomal dominant disorder, is characterized by hyperuricemia, a low fractional renal excretion of urate, and chronic renal failure that is associated with interstitial fibrosis. Studies in 4 families (3 European and 1 Japanese) have mapped the gene causing autosomal dominant FJHN to chromosome 16p11-p13. To refine this location we have pursued linkage studies in 7 European families with autosomal dominant FJHN and used 11 chromosome 16p11-p13 polymorphic loci whose order has been established as 16pter-D16S3069-D16S3060-D16S3041-D16S3036-D16S3046-[D16S403,D16S417]-D16S420-D16S3113-D16S401-D16S3133-16cen. Cosegregation between these polymorphic loci and FJHN was observed in 5 of the families, and linkage was established between FJHN and 6 loci (peak LOD score, 5.32 with D16S417, at 0% recombination), with the most likely location of FJHN being within a 22-centimorgan interval flanked centromerically by D16S401 and telomerically by D16S3069. Furthermore, FJHN in 2 families was found not to be linked to chromosome 16p11-p13, thereby demonstrating genetic heterogeneity. Thus, 5 additional families with FJHN showing linkage to chromosome 16p11-p13 loci have been identified, and genetic heterogeneity has been demonstrated in more than 25% of FJHN families. These results will facilitate the characterization of this gene regulating urate metabolism.

Item Type:	Article
Faculty \ School:	Faculty of Medicine and Health Sciences > Norwich Medical School
UEA Research Groups:	Faculty of Medicine and Health Sciences > Research Groups > Norwich Clinical Trials Unit
Depositing User:	Rhiannon Harvey
Date Deposited:	16 May 2011 15:32
Last Modified:	12 Jan 2024 01:24
URI:	https://ueaeprints.uea.ac.uk/id/eprint/30626
DOI:	10.1210/jc.2002-021268

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