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

Vetrie, D. , Flinter, F., Bobrow, M. and Harris, A. (1992) X inactivation patterns in females with Alport's syndrome: a means of selecting against a deleterious gene? Journal of Medical Genetics, 29(9), pp. 663-666. (PMID:1404298) (PMCID:PMC1016101)

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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.

Item Type:Articles
Status:Published
Refereed:Yes
Glasgow Author(s) Enlighten ID:Vetrie, Professor David
Authors: Vetrie, D., Flinter, F., Bobrow, M., and Harris, A.
College/School:College of Medical Veterinary and Life Sciences > Institute of Cancer Sciences
Journal Name:Journal of Medical Genetics
Publisher:BMJ Publishing Group
ISSN:0022-2593
ISSN (Online):1468-6244

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