X inactivation patterns in females with Alport's syndrome: A means of selecting against a deleterious gene?

David Vetrie, Frances Flinter, Martin Bobrow, Ann Harris*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

30 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)663-666
Number of pages4
JournalJournal of medical genetics
Volume29
Issue number9
DOIs
StatePublished - 1992

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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