Genetics of classic Alport's syndrome.
41 families with classic Alport's syndrome (hereditary nephritis with sensorineural deafness) were studied. All their pedigrees were compatible with X-linked inheritance. DNA probes were used to investigate genetic linkage in these families. Linkage to probe S21 (DXS17) was confirmed (LOD score = 4.72 at 0 = 0.06), localising the gene for Alport's syndrome to the middle of Xq; thus the disorder is X-chromosomal in nature.
D000328:Adult; D002874:Chromosome Mapping; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009394:Nephritis, Hereditary / Q000150:complications / Q000235:genetics* / Q000473:pathology; D012737:Sex Factors; D014960:X Chromosome