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Genetics of classic Alport's syndrome
F A Flinter1, J S Cameron, C Chantler
1Division of Medical and Molecular Genetics, United Medical School, Guy's Hospital, London.
Lancet (London, England)
|October 29, 1988
Abstract:
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.