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Alport syndrome: a genetic study of 31 families |
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| Authors: | Rhida M'Rad Marek Sanak Georges Deschenes Jing Zhou Catherine Bonaiti-Pellie Laurent Holvoet-Vermaut Solange Heuertz Marie-Claire Gubler Michel Broyer Jean-Pierre Grunfeld Karl Tryggvason Marie-Claude Hors-Cayla |
| Institution: | (1) INSERM U12, Hôpital Necker-Enfants Malades, 149, Rue de Sèvres, F-75015 Paris, France;(2) Service de Néphrologie Pédiatrique, Hôpital Necker-Enfants Malades, 149, Rue de Sèvres, F-75015 Paris, France;(3) Biocenter and Department of Biochemistry, University of Oulu, SF-90570 Oulu, Finland;(4) INSERM U155, Château de Longchamps, Bois de Boulogne, F-75016 Paris, France;(5) INSERM U192, Hôpital Necker-Enfants Malades, 149, Rue de Sèvres, F-75015 Paris, France;(6) Département de Néphrologie, Hôpital Necker-Enfants Malades, F-75015 Paris, France;(7) Present address: Département de Génétique, Faculté de Médecine de Tunis, Tunis;(8) Present address: Medical Genetics Department, Institute of Pediatrics, Krakow, Poland;(9) Present address: Hôpital Gatien de Clocheville, F-37044 Tours Cedex, France |
| Abstract: | Thirty one families with Alport syndrome including 3 families with associated syndromes were studied. The location of the COL4A5 gene, responsible for the Alport syndrome, was determined by linkage analysis with eight probes of the Xq arm and by a radiation hybrid panel. Concordant data indicated the localization of the Alport gene between DXS17 and DXS11. Four deletions and one single base mutation of the COL4A5 gene were detected. Homogeneity tests failed to show any evidence of genetic heterogeneity superimposed on clinical heterogeneity for ophthalmic signs and end-stage renal disease age. |
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