Long-range mapping of the gene for the human alpha 5(IV) collagen chain at Xq22-q23.

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

Genomics

journal_title

Genomics

authors

Vetrie D,Flinter F,Bobrow M,Harris A

doi

10.1016/0888-7543(92)90415-o

subject

Has Abstract

pub_date

1992-01-01 00:00:00

pages

130-8

issue

1

eissn

0888-7543

issn

1089-8646

pii

0888-7543(92)90415-O

journal_volume

12

pub_type

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