Localization of the gene for classic Alport syndrome

¹Paediatric Research Unit, United Medical School, Guy's Hospital, London Bridge, United Kingdom.

|April 1, 1989

Abstract:

The inheritance of Alport syndrome has been controversial for 30 years because no clear diagnostic criteria were established to define a clinically homogeneous group of patients. In this study, 41 families with "classic" Alport syndrome were identified and studied. All the pedigrees are compatible with X-linked inheritance. A formal genetic study confirmed linkage to probe S21 (DXS17), with a maximum LOD score of 4.72 at a recombination frequency of 0.06.

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