To investigate the gene mutation in a pedigree with X-linked iehthyosis （XLI） and to explore the relationship between the mutation and its clinical manifestations, genomic DNA of affected members, the normal member ...To investigate the gene mutation in a pedigree with X-linked iehthyosis （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 genomie 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 iehthyosis, and it is responsible for the unique skin lesions of X-linked ichthyosis.展开更多
In the present review, we describe the most importantaspects of the X-linked ichthyosis(XLI) and make a compilation of the some historic details of the disease. The aim of the present study is an update of the XLI. Hi...In the present review, we describe the most importantaspects of the X-linked ichthyosis(XLI) and make a compilation of the some historic details of the disease. The aim of the present study is an update of the XLI. Historical, clinical, epidemiological, and molecular aspects are described through the text. Recessive XLI is a relatively common genodermatosis affecting different ethnic groups. With a high spectrum of the clinical manifestations due to environmental factors, the disease has a genetic heterogeneity that goes from a point mutation to a large deletion involving several genes to produce a contiguous gene syndrome. Most XLI patients harbor complete STS gene deletion and flanked sequences; seven intragenic deletions and 14 point mutations with a complete loss of the steroid sulfatase activity have been reported worldwide. In this study, we review current knowledge about the disease.展开更多
文摘To investigate the gene mutation in a pedigree with X-linked iehthyosis （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 genomie 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 iehthyosis, and it is responsible for the unique skin lesions of X-linked ichthyosis.
文摘In the present review, we describe the most importantaspects of the X-linked ichthyosis(XLI) and make a compilation of the some historic details of the disease. The aim of the present study is an update of the XLI. Historical, clinical, epidemiological, and molecular aspects are described through the text. Recessive XLI is a relatively common genodermatosis affecting different ethnic groups. With a high spectrum of the clinical manifestations due to environmental factors, the disease has a genetic heterogeneity that goes from a point mutation to a large deletion involving several genes to produce a contiguous gene syndrome. Most XLI patients harbor complete STS gene deletion and flanked sequences; seven intragenic deletions and 14 point mutations with a complete loss of the steroid sulfatase activity have been reported worldwide. In this study, we review current knowledge about the disease.
