title: Sequence analysis of a partial deletion of the human steroid sulfatase gene reveals 3 bp of homology at deletion breakpoints.
abstract: The majority of patients with steroid sulfatase deficiency have a deletion of the entire STS gene located on the distal short arm of the human X chromosome; however, two patients with partial gene deletions have been identified. We now report the sequences at the breakpoints of a deletion of the 3' end of the STS gene. The deletion starts within intron 7 of the gene and extends over 150 kb downstream toward the centromere. Analysis of sequences flanking the deletion breakpoints revealed 3 bp of homology. The 3' flanking sequence provides a new probe for isolation of YAC clones and for studying patients with deletions in this region of the X chromosome.
authors.affiliation: Department of Pediatrics, UCLA School of Medicine, Harbor-UCLA Medical Center, Torrance 90509.
authors.forename: L F
authors.initials: LF
authors.lastname: Bernatowicz
authors.forename: X M
authors.initials: XM
authors.lastname: Li
authors.forename: R
authors.initials: R
authors.lastname: Carrozzo
authors.forename: A
authors.initials: A
authors.lastname: Ballabio
authors.forename: T
authors.initials: T
authors.lastname: Mohandas
authors.forename: P H
authors.initials: PH
authors.lastname: Yen
authors.forename: L J
authors.initials: LJ
authors.lastname: Shapiro
mesh_terms: D001192:Arylsulfatases / Q000172:deficiency / Q000235:genetics*; D001483:Base Sequence; D002503:Centromere; D002872:Chromosome Deletion; D004247:DNA / Q000235:genetics; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D012091:Repetitive Sequences, Nucleic Acid; D012689:Sequence Homology, Nucleic Acid; D043266:Steryl-Sulfatase; D014960:X Chromosome / Q000648:ultrastructure
chemical_list: D004247:DNA; D001192:Arylsulfatases; D043266:Steryl-Sulfatase