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 |
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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 > School of Cancer Sciences |
Journal Name: | Journal of Medical Genetics |
Publisher: | BMJ Publishing Group |
ISSN: | 0022-2593 |
ISSN (Online): | 1468-6244 |
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