Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis
The authors have isolated several cDNA clones from a lambdagt11 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.
- Research Organization:
- Univ. of Naples (Italy)
- OSTI ID:
- 5409296
- Journal Information:
- Proc. Natl. Acad. Sci. U.S.A.; (United States), Journal Name: Proc. Natl. Acad. Sci. U.S.A.; (United States) Vol. 84:13; ISSN PNASA
- Country of Publication:
- United States
- Language:
- English
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59 BASIC BIOLOGICAL SCIENCES
BETA DECAY RADIOISOTOPES
BIOLOGY
CELL CONSTITUENTS
CHROMOSOMAL ABERRATIONS
CHROMOSOMES
CLONING
DAYS LIVING RADIOISOTOPES
DISEASES
DNA
DNA-CLONING
ELECTRON CAPTURE RADIOISOTOPES
ENZYME ACTIVITY
ENZYMES
GENETICS
HEREDITARY DISEASES
HETEROCHROMOSOMES
HYBRIDIZATION
INTERMEDIATE MASS NUCLEI
IODINE 125
IODINE ISOTOPES
ISOTOPES
MUTATIONS
NUCLEI
NUCLEIC ACIDS
NUCLEOTIDES
ODD-EVEN NUCLEI
ORGANIC COMPOUNDS
OXIDOREDUCTASES
PATIENTS
PLASMIDS
RADIOISOTOPES
RECOMBINANT DNA
X CHROMOSOME