X inactivation patterns in females with Alport's syndrome: a means of selecting against a deleterious gene?
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.
Vetrie
D
D
Paediatric Research Unit, United Medical School Guy's Hospital, London.
Flinter
F
F
Bobrow
M
M
Harris
A
A
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
D005819:Genetic Markers