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家族性青少年高尿酸血症肾病：基因定位于16p11.2染色体及遗传异质性证据

Familial juvenile hyperuricemic nephropathy: localization of the gene on chromosome 16p11.2-and evidence for genetic heterogeneity.

作者信息

Stibůrková B, Majewski J, Sebesta I, Zhang W, Ott J, Kmoch S

机构信息

Institute for Inherited Metabolic Disorders, 128 00 Prague 2, Czech Republic.

出版信息

Am J Hum Genet. 2000 Jun;66(6):1989-94. doi: 10.1086/302936. Epub 2000 Apr 25.

DOI:10.1086/302936
PMID:10780922
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1378048/
Abstract

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.

摘要

家族性青少年高尿酸血症肾病（FJHN）是一种常染色体显性遗传性肾脏疾病，其特征为青少年期起病的高尿酸血症、痛风性关节炎以及早期进行性肾衰竭。通过对三个捷克患病家庭进行全基因组连锁分析，我们在16号染色体p11.2区域鉴定出一个FJHN基因座，并发现了该疾病存在遗传异质性以及外显率降低的证据。考虑到遗传异质性计算得到的最大两点对数优势分数（HLOD）为4.70，在重组率为0时，标记为D16S3036处获得；多点连锁分析在同一位置得到的最大HLOD分数为4.76。单倍型分析确定了侧翼标记D16S501和D16S3113之间一个10厘摩的候选区域，该区域显示出与疾病基因座的交叉事件。候选区间包含几个在肾脏中表达的基因，其中两个——尿调节蛋白和NADP调节的甲状腺激素结合蛋白——是进一步分析的有希望的候选基因。

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本文引用的文献

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Gout, familial hypericaemia, and renal disease.痛风、家族性高尿酸血症和肾脏疾病。
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