STS gene in a pedigree with X-linked ichthyosis.

Abstract

To investigate the gene mutation in a pedigree with X-linked ichthyosis (XLI) and to explore the relationship between the mutation and its clinical manifestations, genomic DNA of affected members, the normal member of the pedigree and 50 unrelated normal members was extracted with a whole blood genomic DNA extraction kit and the DNA was used as a template for the polymerase chain reaction (PCR)-mediated amplification of exon 1 and exon 10 of the STS gene. hHb6 (human hair basic keratin) gene was used as the internal control. Our results showed that the STS gene was deleted in affected members in the pedigree with X-linked ichthyosis. The normal member of the pedigree and 50 unrelated normal members had no such deletion. The proband and his mother had products in the internal control after PCR amplification. The blank control had no product. It is concluded that deletion of the STS gene existed in this pedigree with X-linked ichthyosis, and it is responsible for the unique skin lesions of X-linked ichthyosis.

• Authors: An Liu, Shengxiang Xiao, Shengshun Tan, Xiaobing Lei, Jiang'an Zhang, Ting Jiao, Yan Liu
• Journal: Journal of Huazhong University of Science and Technology. Medical sciences = Hua zhong ke ji da xue xue bao. Yi xue Ying De wen ban = Huazhong keji daxue xuebao. Yixue Yingdewen ban (J Huazhong Univ Sci Technolog Med Sci) Vol. 25 Issue 4 Pg. 468-9 ( 2005) ISSN: 1672-0733 [Print] China
• PMID: 16196306 (Publication Type: Journal Article)

Chemical References

• Steryl-Sulfatase

Topics

• Adult
• Female
• Gene Deletion
• Humans
• Ichthyosis, X-Linked (genetics)
• Male
• Pedigree
• Steryl-Sulfatase (genetics)