title: X inactivation patterns in females with Alport's syndrome: a means of selecting against a deleterious gene?
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.
authors.affiliation: Paediatric Research Unit, United Medical School Guy's Hospital, London.
authors.forename: D
authors.initials: D
authors.lastname: Vetrie
authors.forename: F
authors.initials: F
authors.lastname: Flinter
authors.forename: M
authors.initials: M
authors.lastname: Bobrow
authors.forename: A
authors.initials: A
authors.lastname: Harris
mesh_terms: D004303:Dosage Compensation, Genetic; D005260:Female; D005819:Genetic Markers; D006579:Heterozygote; D006801:Humans; D008214:Lymphocytes; D009394:Nephritis, Hereditary / Q000235:genetics*; D010375:Pedigree; D012641:Selection, Genetic
chemical_list: D005819:Genetic Markers