| Autor: |
Ruf RG; Department of Pediatrics, University of Michigan Health System, 1150 W. Medical Center Drive, Ann Arbor, MI 48109-0646, USA., Fuchshuber A, Karle SM, Lemainque A, Huck K, Wienker T, Otto E, Hildebrandt F |
| Jazyk: |
angličtina |
| Zdroj: |
Journal of the American Society of Nephrology : JASN [J Am Soc Nephrol] 2003 Jul; Vol. 14 (7), pp. 1897-900. |
| DOI: |
10.1097/01.asn.0000070070.03811.02 |
| Abstrakt: |
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 Z(max) = 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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
|
