X inactivation patterns in females with Alport's syndrome: a means of selecting against a deleterious gene?
Open Access
- 1 September 1992
- journal article
- Published by BMJ in Journal of Medical Genetics
- Vol. 29 (9) , 663-666
- https://doi.org/10.1136/jmg.29.9.663
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.Keywords
This publication has 16 references indexed in Scilit:
- X inactivation as a mechanism of selection against lethal alleles: further investigation of incontinentia pigmenti and X linked lymphoproliferative disease.Journal of Medical Genetics, 1992
- Major rearrangements in the α5(IV) collagen gene in three patients with alport syndromeGenomics, 1991
- Single base mutation in α5(IV) collagen chain gene converting a conserved cysteine to serine in Alport syndromeGenomics, 1991
- Identification of Mutations in the COL4A5 Collagen Gene in Alport SyndromeScience, 1990
- Localization of the gene for classic Alport syndromeGenomics, 1989
- Linkage studies in X-linked Alport's syndromeHuman Genetics, 1988
- Localization of the gene for X-linked Alport's syndromeKidney International, 1988
- Use of Restriction Fragment Length Polymorphisms to Determine the Clonal Origin of Human TumorsScience, 1985
- Isolation of a genomic clone partially encoding human hypoxanthine phosphoribosyltransferase.Proceedings of the National Academy of Sciences, 1982
- HEREDITARY FAMILIAL CONGENITAL HAEMORRHAGIC NEPHRITISBMJ, 1927