TY - JOUR
T1 - Sequence analysis of a partial deletion of the human steroid sulfatase gene reveals 3 bp of homology at deletion breakpoints
AU - Bernatowicz, Lynne F.
AU - Li, Xiao Miao
AU - Carrozzo, Romeo
AU - Ballabio, Andrea
AU - Mohandas, Thuluvancheri
AU - Yen, Pauline H.
AU - Shapiro, Larry J.
N1 - Funding Information:
Passage for their excellent for helpful discussion, and The work was supported by
PY - 1992/7
Y1 - 1992/7
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0026742040&partnerID=8YFLogxK
U2 - 10.1016/0888-7543(92)90179-V
DO - 10.1016/0888-7543(92)90179-V
M3 - Article
C2 - 1639422
AN - SCOPUS:0026742040
VL - 13
SP - 892
EP - 893
JO - Genomics
JF - Genomics
SN - 0888-7543
IS - 3
ER -