Cookies on this website
We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings.

We have isolated several cDNA clones from a lambda gt11 expression library by screening with antibodies prepared against the microsomal enzyme steroid sulfatase, which is deficient in classical X-chromosome-linked ichthyosis patients. One of these clones (p422) has been assigned by mapping with a somatic cell hybrid panel and by in situ hybridization to Xp22.3. Clone p422 therefore has a coincident localization with the previously identified locus for steroid sulfatase expression in the region of the X chromosome escaping from inactivation. Twelve steroid sulfatase-deficient patients, including eight cases of classical ichthyosis, were found to be deleted for genomic sequences detected by the clone.

Original publication

DOI

10.1073/pnas.84.13.4519

Type

Journal article

Journal

Proc Natl Acad Sci U S A

Publication Date

07/1987

Volume

84

Pages

4519 - 4523

Keywords

Chromosome Deletion, Chromosome Mapping, DNA, DNA, Recombinant, Dosage Compensation, Genetic, Female, Humans, Ichthyosis, Male, Sex Chromosome Aberrations, Steryl-Sulfatase, Sulfatases, X Chromosome