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  • Title: [Investigation of steroid sulfatase gene in two pedigrees with X-linked ichthyosis].
    Author: Liu A, Xiao SX, Tan SS, Jiao T, Liu Y, Li XL, Zhou SN.
    Journal: Di Yi Jun Yi Da Xue Xue Bao; 2005 Aug; 25(8):1023-5. PubMed ID: 16109567.
    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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