| Autor: |
Ruf RG; Department of Pediatrics, University of Michigan, Ann Arbor, 48109, USA., Wolf MT, Hennies HC, Lucke B, Zinn C, Varnholt V, Lichtenberger A, Pasch A, Imm A, Briese S, Lennert T, Fuchshuber A, Nurnberg P, Hildebrandt F |
| Jazyk: |
angličtina |
| Zdroj: |
Journal of the American Society of Nephrology : JASN [J Am Soc Nephrol] 2003 Jun; Vol. 14 (6), pp. 1519-22. |
| DOI: |
10.1097/01.asn.0000066141.55735.8d |
| Abstrakt: |
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 (theta = 0) for marker D14S1025 and a two-point LOD score of Z(max) = 3.46 (theta = 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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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