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X-性联锁遗传鱼鳞病一家系STS基因研究 被引量：1

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摘要 研究X-性联锁遗传鱼鳞病(XLI)一家系基因突变情况,检测基因突变与临床表现的关系,为进一步开展基因诊断和基因治疗奠定基础。抽取该家系中患者、正常人及与这些家系无关的100例正常人的外周血,提取外周血基因组DNA。应用PCR方法扩增外周血基因组DNA类固醇硫酸酯酶(SIS)基因的第1、2和10外显子。结果:该家系中的患者STS基因全部缺失,家系中正常人和与该家系无关的100例正常人未发现这种缺失。该缺失引发出XLI特有的皮肤病变。
作者 何玉清 张锡宝 曾抗 张三泉 刘玉梅 罗权 罗育武 刘福荣 林仕英
机构地区 南方医科大学南方医院皮肤科 广州市皮肤病防治所
出处 《中国麻风皮肤病杂志》 2009年第7期511-513,共3页 China Journal of Leprosy and Skin Diseases
基金 广东省自然科学基金资助项目(NO.06021655) 广州市卫生局重点资助项目(NO.2006-ZDi-07)
关键词 X-性联锁遗传鱼鳞病 类固醇硫酸酯酶 基因突变 缺失
分类号 R758.52 [医药卫生—皮肤病学与性病学]
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参考文献12

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二级参考文献9

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中国麻风皮肤病杂志
2009年 第7期

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