Liu An, Xiao Shengxiang, Tan Shengshun, Lei Xiaobing, Zhang Jiang'an, Jiao Ting, Liu Yan
Department of Dermatology, the Second Hospital, Xi'an Jiaotong University, Xi'an 710004, China.
J Huazhong Univ Sci Technolog Med Sci. 2005;25(4):468-9. doi: 10.1007/BF02828226.
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.
为研究一个患有X连锁鱼鳞病（XLI）家系中的基因突变情况，并探讨该突变与其临床表现之间的关系，使用全血基因组DNA提取试剂盒提取了该家系中患病成员、正常成员以及50名无关正常个体的基因组DNA，并将其作为模板用于聚合酶链反应（PCR）介导的类固醇硫酸酯酶（STS）基因外显子1和外显子10的扩增。以hHb6（人发碱性角蛋白）基因作为内对照。结果显示，该X连锁鱼鳞病家系中的患病成员存在STS基因缺失，家系中的正常成员以及50名无关正常个体未出现这种缺失。先证者及其母亲在PCR扩增后在内对照中有产物，空白对照无产物。结论是，该X连锁鱼鳞病家系存在STS基因缺失，且这是导致X连锁鱼鳞病独特皮肤损害的原因。
