Long-range mapping of the gene for the human α5(IV) collagen chain at Xq22-q23

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

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

15 Scopus citations


The X-linked kidney disorder known as Alport syndrome (AS) has been shown to be due to mutations in the gene for an α5 chain of type IV collagen that maps to Xq22-23. Using overlapping cDNA clones that represent approximately 90% of this gene and pulsed-field gel electrophoresis, we have constructed a 2.4-Mb long-range restriction map around the locus. All of the cDNA clones lie within a 360-kb segment of DNA bounded by CpG islands that contain sites for the rare-cutting enzymes BssHII, MluI, NotI, NruI, SalI, and SfiI. High-resolution PFGE mapping with XhoI shows that the gene is at least 110 kb in size and is one of the largest collagen genes characterized to date. This map will prove useful in the characterization of mutations in individuals affected with AS and will also provide information as to the location of other genes in the region.

Original languageEnglish (US)
Pages (from-to)130-138
Number of pages9
Issue number1
StatePublished - Jan 1992

ASJC Scopus subject areas

  • Genetics


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