title: The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions.
abstract: We have used cell lines from patients with deletions and translocations 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.
authors.affiliation: Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030.
authors.forename: M C
authors.initials: MC
authors.lastname: Wapenaar
authors.forename: M T
authors.initials: MT
authors.lastname: Bassi
authors.forename: L
authors.initials: L
authors.lastname: Schaefer
authors.forename: A
authors.initials: A
authors.lastname: Grillo
authors.forename: G B
authors.initials: GB
authors.lastname: Ferrero
authors.forename: A C
authors.initials: AC
authors.lastname: Chinault
authors.forename: A
authors.initials: A
authors.lastname: Ballabio
authors.forename: H Y
authors.initials: HY
authors.lastname: Zoghbi
mesh_terms: D016117:Albinism, Ocular / Q000145:classification / Q000235:genetics*; D001483:Base Sequence; D002460:Cell Line; D015825:Chromosomes, Fungal; D003001:Cloning, Molecular; D016384:Consensus Sequence; D004247:DNA / Q000235:genetics; D005260:Female; D015723:Gene Library; D008040:Genetic Linkage; D015894:Genome, Human; D006801:Humans; D008297:Male; D008850:Microphthalmos / Q000235:genetics*; D008969:Molecular Sequence Data; D015183:Restriction Mapping; D012868:Skin Abnormalities; D014960:X Chromosome
chemical_list: D004247:DNA