Familial juvenile hyperuricemic nephropathy: localization of the gene on chromosome 16p11.2-and evidence for genetic heterogeneity
Language English Country United States Media print-electronic
Document type Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.
Grant support
HG00008
NHGRI NIH HHS - United States
PubMed
10780922
PubMed Central
PMC1378048
DOI
10.1086/302936
PII: S0002-9297(07)63553-8
Knihovny.cz E-resources
- MeSH
- Crossing Over, Genetic genetics MeSH
- Child MeSH
- Gout complications genetics metabolism urine MeSH
- Genes, Dominant genetics MeSH
- Adult MeSH
- Genetic Heterogeneity * MeSH
- Haplotypes genetics MeSH
- Thyroid Hormones * MeSH
- Uric Acid blood metabolism MeSH
- Middle Aged MeSH
- Humans MeSH
- Chromosomes, Human, Pair 16 genetics MeSH
- Lod Score MeSH
- Chromosome Mapping MeSH
- Membrane Proteins genetics MeSH
- Adolescent MeSH
- Mucoproteins genetics MeSH
- Penetrance MeSH
- Renal Insufficiency complications genetics metabolism urine MeSH
- Pedigree MeSH
- Carrier Proteins genetics MeSH
- Uromodulin MeSH
- Thyroid Hormone-Binding Proteins MeSH
- Age of Onset MeSH
- Check Tag
- Child MeSH
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Adolescent MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Research Support, U.S. Gov't, P.H.S. MeSH
- Geographicals
- Czech Republic MeSH
- Names of Substances
- Thyroid Hormones * MeSH
- Uric Acid MeSH
- Membrane Proteins MeSH
- Mucoproteins MeSH
- Carrier Proteins MeSH
- UMOD protein, human MeSH Browser
- Uromodulin MeSH
Familial juvenile hyperuricemic nephropathy (FJHN), is an autosomal dominant renal disease characterized by juvenile onset of hyperuricemia, gouty arthritis, and progressive renal failure at an early age. Using a genomewide linkage analysis in three Czech affected families, we have identified, on chromosome 16p11.2, a locus for FJHN and have found evidence for genetic heterogeneity and reduced penetrance of the disease. The maximum two-point LOD score calculated with allowance for heterogeneity (HLOD) was 4.70, obtained at recombination fraction 0, with marker D16S3036; multipoint linkage analysis yielded a maximum HLOD score of 4.76 at the same location. Haplotype analysis defined a 10-cM candidate region between flanking markers D16S501 and D16S3113, exhibiting crossover events with the disease locus. The candidate interval contains several genes expressed in the kidney, two of which-uromodulin and NADP-regulated thyroid-hormone-binding protein-represent promising candidates for further analysis.
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