Author:
Ruf Rainer G.,Fuchshuber Arno,Karle Stephanie M.,Lemainque Arnaud,Huck Kirsten,Wienker Thomas,Otto Edgar,Hildebrandt Friedhelm
Abstract
ABSTRACT. Disease mechanisms of steroid-sensitive nephrotic syndrome (SSNS) remain unknown. Whereas gene identification has furthered the understanding of pathomechanisms in steroid-resistant nephrotic syndrome (SRNS), not even a gene locus is known for SSNS. Total genome linkage analysis was performed in a consanguineous SSNS kindred to identify a gene locus for SSNS. Homozygosity mapping identified a locus for SSNS on chromosome 2p12-p13.2 between markers D2S292 and D2S289 (multipoint LOD score Zmax = 3.01 at D2S145). The first gene locus for SSNS, as a first step to detect the responsible gene, was thus identified. There was clear evidence for genetic locus heterogeneity upon examination of ten additional families with SSNS. E-Mail: fhilde@umich.edu
Publisher
American Society of Nephrology (ASN)
Subject
Nephrology,General Medicine
Cited by
42 articles.
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