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OALib Journal期刊
ISSN: 2333-9721
费用：99美元
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两x-性连遗传鱼鳞病家系类固醇硫酸酯酶基因研究
, PP. 1023-1025
Keywords: 类固醇硫酸酯酶,基因,缺失,x性连锁遗传鱼鳞病
Abstract:
目的研究x性连锁遗传鱼鳞病(xli)家系基因突变,探讨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。方法抽取不同地区两个家系中患者、正常人及与这些家系无关的50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(sts)基因的第1、2和10外显子。结果两个家系中的患者sts基因均部分缺失,既仅有第1外显子,而无其他外显子。家系中正常人和与该家系无关的50例正常人未发现这种缺失。结论该两xli家系存在sts基因部分缺失,该缺失引发出xli特有的皮肤病变。
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