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| Item Type: | Article |
|---|---|
| Title: | A gene locus for steroid-resistant nephrotic syndrome with deafness maps to chromosome 14q24.2 |
| Creators Name: | Ruf, R.G., Wolf, M.T.F., Hennies, H.C., Lucke, B., Zinn, C., Varnholt, V., Lichtenberger, A., Pasch, A., Imm, A., Briese, S., Lennert, T., Fuchshuber, A., 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 |
| 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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