一种家族性青少年肾单位肾痨（隐性髓质囊性肾病）的基因定位于2号染色体短臂。

A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p.

作者信息

Antignac C, Arduy C H, Beckmann J S, Benessy F, Gros F, Medhioub M, Hildebrandt F, Dufier J L, Kleinknecht C, Broyer M

机构信息

CEPH, Paris, France.

出版信息

Nat Genet. 1993 Apr;3(4):342-5. doi: 10.1038/ng0493-342.

DOI:10.1038/ng0493-342

PMID:7981755

Abstract

Familial juvenile nephronophthisis (NPH) is a chronic autosomal recessive kidney disease responsible for 15% of end stage renal failure in children. NPH is frequently (16% of cases) associated with Leber amaurosis (termed Senior-Løken syndrome, SLS). Linkage analyses, performed in 22 multiplex NPH families (18 without and 4 with ocular abnormalities), have localized the gene to a region between D2S48 and D2S51 on chromosome 2p. This was confirmed using adjacent microsatellite markers, one of which (AFM220ze3 at the D2S160 locus) gave a lod score of 4.78 at theta = 0.05 in the 18 families with isolated NPH, whereas the same marker excluded linkage with SLS. These results demonstrate linkage of the purely renal form of NPH to chromosome 2p, and suggest that there may be genetic heterogeneity between NPH and SLS.

摘要

家族性青少年肾单位肾痨（NPH）是一种慢性常染色体隐性遗传性肾病，占儿童终末期肾衰竭病例的15%。NPH常（16%的病例）与莱伯先天性黑蒙相关（称为Senior-Løken综合征，SLS）。对22个NPH复合家系（18个无眼部异常，4个有眼部异常）进行的连锁分析已将该基因定位到2号染色体短臂上D2S48和D2S51之间的区域。使用相邻的微卫星标记证实了这一点，其中一个标记（D2S160位点的AFM220ze3）在18个孤立性NPH家系中，在θ=0.05时的连锁对数得分为4.78，而同一标记排除了与SLS的连锁关系。这些结果证明了纯肾型NPH与2号染色体短臂的连锁关系，并提示NPH和SLS之间可能存在遗传异质性。