Abstract:
:The X-linked kidney disorder known as Alport syndrome (AS) has been shown to be due to mutations in the gene for an alpha 5 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.
journal_name
Genomicsjournal_title
Genomicsauthors
Vetrie D,Flinter F,Bobrow M,Harris Adoi
10.1016/0888-7543(92)90415-osubject
Has Abstractpub_date
1992-01-01 00:00:00pages
130-8issue
1eissn
0888-7543issn
1089-8646pii
0888-7543(92)90415-Ojournal_volume
12pub_type
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