Sequence analysis of a partial deletion of the human steroid sulfatase gene reveals 3 bp of homology at deletion breakpoints.
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.
Bernatowicz
L F
LF
Department of Pediatrics, UCLA School of Medicine, Harbor-UCLA Medical Center, Torrance 90509.
Li
X M
XM
Carrozzo
R
R
Ballabio
A
A
Mohandas
T
T
Yen
P H
PH
Shapiro
L J
LJ
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
D004247:DNA; D001192:Arylsulfatases; D043266:Steryl-Sulfatase