DNA rearrangements in the α5(IV) collagen gene (COL4A5) of individuals with alport syndrome: Further refinement using pulsed-field gel electrophoresis

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

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

18 Scopus citations

Abstract

Alport syndrome (AS), an X-linked kidney disorder, has been shown to be caused by mutations in the gene for the α5-chain of type IV collagen (COL4A5), which maps to Xq22. On the basis of the results of conventional Southern blot analysis of AS patient DNAs, we employed pulsed-field gel electrophoresis to characterize further three gene rearrangements at the 3′-end of α5(IV). We were able to construct long-range restriction maps for all three of these patients and deduce the extent and nature of each rearrangement. One of these mutations is a 450-kb simple deletion that includes 12 kb of the α5(IV) gene. A second mutation has been shown to be a direct duplication of 35 kb of α5(IV) genomic DNA, and a third mutation involves a complex insertion/deletion event resulting in an overall loss of 25 kb.

Original languageEnglish (US)
Pages (from-to)624-633
Number of pages10
JournalGenomics
Volume14
Issue number3
DOIs
StatePublished - Nov 1992

ASJC Scopus subject areas

  • Genetics

Fingerprint Dive into the research topics of 'DNA rearrangements in the α5(IV) collagen gene (COL4A5) of individuals with alport syndrome: Further refinement using pulsed-field gel electrophoresis'. Together they form a unique fingerprint.

Cite this