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. 2005 Aug;25(8):1023-5.

[Investigation of steroid sulfatase gene in two pedigrees with X-linked ichthyosis]

[Article in Chinese]
An Liu  1 , Sheng-xiang Xiao, Sheng-shun Tan, Ting Jiao, Yan Liu, Xiao-li Li, Shao-na Zhou
Affiliations
  • PMID: 16109567

[Investigation of steroid sulfatase gene in two pedigrees with X-linked ichthyosis]

[Article in Chinese]
An Liu et al. Di Yi Jun Yi Da Xue Xue Bao. 2005 Aug.

Abstract

Objective: To investigate the gene mutation in two pedigrees with X-linked ichthyosis (XLI) and explore the relationship between the mutation and clinical manifestations.

Methods: Genomic DNA of the affected and normal members of the pedigrees and 50 unrelated normal subjects from different regions was extracted with a whole blood genomic DNA extraction kit for use of the template for PCR amplification of exon 1, exon 2 and exon 10 of the steroid sulfatase (STS) gene.

Results: The STS gene was partially deleted in the affected members in the pedigrees with XLI, leaving only exon 1 but not the other exons. The normal member of the pedigree and 50 unrelated normal subjects had no such deletion.

Conclusion: Partial deletion of the STS gene exists in the two pedigrees with XLI, which is responsible for pathological skin changes characteristic of XLI.

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