title: Alport syndrome: a genetic study of 31 families.
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.
authors: INSERM U12, Hôpital Necker-Enfants Malades, Paris, France.
authors: R
authors: R
authors: M'Rad
authors: M
authors: M
authors: Sanak
authors: G
authors: G
authors: Deschenes
authors: J
authors: J
authors: Zhou
authors: C
authors: C
authors: Bonaiti-Pellie
authors: L
authors: L
authors: Holvoet-Vermaut
authors: S
authors: S
authors: Heuertz
authors: M C
authors: MC
authors: Gubler
authors: M
authors: M
authors: Broyer
authors: J P
authors: JP
authors: Grunfeld
mesh_terms: D000293:Adolescent; D000328:Adult; D000818:Animals; D003094:Collagen / Q000235:genetics; D006224:Cricetinae; D005260:Female; D017353:Gene Deletion; D008040:Genetic Linkage; D006801:Humans; D006822:Hybrid Cells; D008297:Male; D009394:Nephritis, Hereditary / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D017354:Point Mutation; D014960:X Chromosome
chemical_list: D003094:Collagen