Major rearrangements in the α5(IV) collagen gene in three patients with alport syndrome

Eileen Boye, David Vetrie, Frances Flinter, Brenda Buckle, Taina Pihlajaniemi, Eija Riitta Hamalainen, Jeanne C. Myers, Martin Bobrow, Ann Harris*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

47 Scopus citations

Abstract

The gene coding for the α5 chain of type IV collagen (α5(IV) collagen), which maps to Xq22, is a candidate gene for the X-linked dominant disease Alport syndrome (AS). Using three cDNA clones, covering the 3′ end of the α5(IV) collagen gene, 3 of 38 patients have been identified with mutations in this gene. Each of these patients shows a gross rearrangement of DNA: a deletion of at least 35 kb, an insertion/deletion event involving approximately 25 kb, and a duplication of at least 35 kb of DNA.

Original languageEnglish (US)
Pages (from-to)1125-1132
Number of pages8
JournalGenomics
Volume11
Issue number4
DOIs
StatePublished - Dec 1991

ASJC Scopus subject areas

  • Genetics

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