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Article

Detection of carriers for X-linked ichthyosis by Southern blot analysis and identification of one family with a de novo mutation.

The Journal of investigative dermatology - 1 Jul 1990

Bonifas J M, Epstein E H

Abstract excerpt

Scaling in patients with recessive X-linked ichthyosis is caused by lack of activity of the enzyme steroid sulfatase. In approximately 90% of kindreds, this lack is the result of a DNA deletion large enough to eliminate the coding region completely. We have used Southern blot hybridization of DNA isolated from peripheral blood leukocytes to measure gene dosage of the steroid sulfatase gene. This readily detects a...

Topics

Arylsulfatases
Blotting, Southern
DNA
DNA Probes
Factor VII
Female
Genetic Carrier Screening
Genetic Linkage
Humans
Ichthyosis
Male
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Steryl-Sulfatase

X Chromosome

Source

Identifiers

PMID: 2366000
DOI: 10.1111/1523-1747.ep12872703

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2366000-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Detection of carriers for X-linked ichthyosis by Southern blot analysis and identification of one family with a de novo mutation.PMID 2366000Read ↗

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