Sequence analysis of a partial deletion of the human steroid sulfatase gene reveals 3 bp of homology at deletion breakpoints

Lynne F. Bernatowicz, Xiao Miao Li, Romeo Carrozzo, Andrea Ballabio, Thuluvancheri Mohandas, Pauline H. Yen, Larry J. Shapiro

    Research output: Contribution to journalArticlepeer-review

    12 Scopus citations

    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.

    Original languageEnglish
    Pages (from-to)892-893
    Number of pages2
    JournalGenomics
    Volume13
    Issue number3
    DOIs
    StatePublished - Jul 1992

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