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The patterns of X chromosome inactivation in 43 females from families segregating classic Alport's syndrome (AS) (X linked hereditary nephritis with deafness) have been analysed. AS carrier females have a most variable clinical course. The aim of the study was to establish whether there was any correlation between the X inactivation pattern of a carrier female and the severity of her disease. No correlation was found in DNA derived from peripheral blood lymphocytes. However, it remains possible that differential patterns of X inactivation may occur in the tissues affected by AS, namely the basement membrane of the kidney, eye, and ear.


Journal article


J Med Genet

Publication Date





663 - 666


Dosage Compensation, Genetic, Female, Genetic Markers, Heterozygote, Humans, Lymphocytes, Nephritis, Hereditary, Pedigree, Selection, Genetic