TY - JOUR
T1 - X inactivation patterns in females with Alport's syndrome
T2 - A means of selecting against a deleterious gene?
AU - Vetrie, David
AU - Flinter, Frances
AU - Bobrow, Martin
AU - Harris, Ann
PY - 1992
Y1 - 1992
N2 - 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.
AB - 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.
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U2 - 10.1136/jmg.29.9.663
DO - 10.1136/jmg.29.9.663
M3 - Article
C2 - 1404298
AN - SCOPUS:0026786831
SN - 0022-2593
VL - 29
SP - 663
EP - 666
JO - Journal of medical genetics
JF - Journal of medical genetics
IS - 9
ER -