Steroid sulfatase gene mutation in a Chinese pedigree with X-linked ichthyosis

VernacularTitle:X-性连锁鱼鳞病一家系类固醇硫酸酯酶基因研究
Author: Hongjun XU ; Dongjie ZANG ; Cheng ZHOU ; Jianzhong ZHANG
Publication Type:Journal Article
From: Chinese Journal of Dermatology 2011;44(3):203-204
CountryChina
Language:Chinese
Abstract: Objective To detect the steroid sulfatase (STS) gene mutation in a Chinese pedigree with X-linked ichthyosis (XLI). Methods Genomic DNA was extracted from the peripheral blood of 3 affected patients and unaffected members in this family and 50 unrelated healthy volunteers followed by the amplification of the exon 1 and exon 10 of STS gene by PCR. Results Complete deletion of the exon 1 to 10 of STS gene was detected in all the patients in this pedigree with XLI, while no mutation was found in this gene in unaffected members of this family or normal human controls. Conclusion The complete deletion of STS gene is likely to be the main cause of the phenotype of XLI in this family.