X inactivation patterns in females with Alport's syndrome: a means of selecting against a deleterious gene?. Issue 9 (September 1992)

• Record Type: Journal Article
• Authors: Vetrie, D; Flinter, F; Bobrow, M; Harris, A
• Is Part Of: Journal of medical genetics. Volume 29:Issue 9(1992)
• Page Start: 663
• Page End: 666
• Publication Date: 1992-09
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.29.9.663
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : 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.