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A gene locus for steroid-resistant nephrotic syndrome with deafness maps to chromosome 14q24.2

Item Type:Article
Title:A gene locus for steroid-resistant nephrotic syndrome with deafness maps to chromosome 14q24.2
Creators Name:Ruf, R.G. and Wolf, M.T.F. and Hennies, H.C. and Lucke, B. and Zinn, C. and Varnholt, V. and Lichtenberger, A. and Pasch, A. and Imm, A. and Briese, S. and Lennert, T. and Fuchshuber, A. and Nuernberg, P. and Hildebrandt, F.
Abstract:Steroid-resistant nephrotic syndrome (SRNS) leads to end-stage renal disease (ESRD) in childhood or young adulthood. Positional cloning for genes causing SRNS has opened the first insights into the understanding of its pathogenesis. This study reports a genome-wide search for linkage in a consanguineous Palestinian kindred with SRNS and deafness and detection of a region of homozygosity on chromosome 14q24.2. Multipoint analysis of 12 markers used for further fine mapping resulted in a LOD score Z max of 4.12 (θ = 0) for marker D14S1025 and a two-point LOD score of Z max = 3.46 (θ = 0) for marker D14S77. Lack of homozygosity defined D14S1065 and D14S273 as flanking markers to a 10.7 cM interval. The identification of the responsible gene will provide new insights into the molecular basis of nephrotic syndrome and sensorineural deafness.
Keywords:Alleles, Chromosome Mapping, Drug Resistance, Genetic Markers, Haplotypes, Homozygote, Lod Score, Nephrotic Syndrome, Pair 14 Human Chromosomes , Pedigree, Sensorineural Hearing Loss, Steroids
Source:Journal of the American Society of Nephrology
ISSN:1046-6673
Publisher:American Society of Nephrology (U.S.A.)
Volume:14
Number:6
Page Range:1519-1522
Date:1 January 2003
Official Publication:http://jasn.asnjournals.org/cgi/content/abstract/14/6/1519
PubMed:View item in PubMed

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