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Alport syndrome: a genetic study of 31 families


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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M'Rad, R., Sanak, M., Deschenes, G. et al. Alport syndrome: a genetic study of 31 families. Hum Genet 90, 420–426 (1992).

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  • Internal Medicine
  • Renal Disease
  • Metabolic Disease
  • Genetic Study
  • Linkage Analysis