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J Med Genet. 1992 Sep;29(9):663-6.

X inactivation patterns in females with Alport's syndrome: a means of selecting against a deleterious gene?

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


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.

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