Genetic mapping studies of familial juvenile hyperuricemic nephropathy on chromosome 16p11-p13.
J Clin Endocrinol Metab
; 88(1): 464-70, 2003 Jan.
Article
em En
| MEDLINE
| ID: mdl-12519891
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.
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Base de dados:
MEDLINE
Assunto principal:
Cromossomos Humanos Par 16
/
Mapeamento Cromossômico
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Hiperuricemia
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Nefropatias
Tipo de estudo:
Prognostic_studies
Limite:
Child
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Female
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Humans
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Male
Idioma:
En
Ano de publicação:
2003
Tipo de documento:
Article