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© 1993 Oxford University Press

RESEARCH-ARTICLE

The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions

Martin C. Wapenaar1, Maria T. Bassl1, Laura Schaefer1, Alessandra Grillo1, Giovanni B. Ferrero1, A.Craig Chlnault1,2, Andrea Ballabio1,2 and Huda Y. Zoghbi1,2,3,*

1Institute for Molecular Genetics, Baylor College of Medicine Houston, TX 77030, USA 2Human Genome Center, Baylor College of Medicine Houston, TX 77030, USA 3Department of Pediatrics, Baylor College of Medicine Houston, TX 77030, USA

* To whom correspondence should be addressed at: Department of Pediatrics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA

Received March 10, 1993; Revised April 20, 1993; Accepted April 20, 1993

We have used cell lines from patients with deletions and transiocations involving the Xp22 region to map the genes for two X-linked disorders, ocular albinism type 1 (OA1) and microphthalmia with linear skin defects (MLS). Using existing and newly isolated DNA markers, the map position within Xp22 of key patient breakpoints, defining the boundaries of the genomic regions involved in these disorders (the critical regions), has been precisely determined. A 2.6 Mb yeast artificial chromosome (YAC) contig, spanning the critical regions for these two disorders, was assembled. Detailed long-range restriction analysis of the contig established the sizes of the critical regions to be 200 kb for OA1 and 800–925 kb for MLS. Ten potential CpG-islands, representing candidate sites for genes, have been mapped within the 2.6 Mb region. Our data should greatly facilitate efforts aimed at cloning the genes for these developmental defects.


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