X-linked ichthyosis in Mexico: high frequency of deletions in the steroid sulfatase encoding gene.

Abstract

The present study analyzes the frequency of molecular deletions in the steroid sulfatase (STS) encoding gene in a sample of 50 Mexican subjects with biochemical diagnosis of X-linked ichthyosis (XLI). To establish the correct diagnosis, STS activity was determined in leukocytes using 7-(3)H-dehydroepiandrosterone sulfate as the substrate. No amplification of the 3' and 5' ends of the STS gene by PCR was detected in the DNA of 49 patients, whereas only one sample of 50 presented a normal amplification. This report shows a very high frequency of deletions in the human STS encoding gene in a representative sample of the Mexican population, and it defines the characteristics of XLI in patients whose STS gene has a complete deletion as a major molecular defect.

• Authors: S A Cuevas-Covarrubias, S H Kofman-Alfaro, G Maya-Núñez, J C Díaz-Zagoya, E Orozco Orozco
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 72 Issue 4 Pg. 415-6 (Nov 12 1997) ISSN: 0148-7299 [Print] United States
• PMID: 9375723 (Publication Type: Journal Article)

Chemical References

• Arylsulfatases
• Steryl-Sulfatase

Topics

• Arylsulfatases (genetics)
• Gene Deletion
• Gene Frequency
• Humans
• Ichthyosis, X-Linked (enzymology, genetics)
• Mexico
• Polymerase Chain Reaction
• Steryl-Sulfatase