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| 遗传性全白甲家系的KLF7和CPO基因突变分析 | |
| 引用本文： | 解方,冯峥,张文,李恒进,刘红杰. 遗传性全白甲家系的KLF7和CPO基因突变分析[J]. 军医进修学院学报, 2007, 28(3): 213-214 |
| 作者姓名： | 解方 冯峥 张文 李恒进 刘红杰 |
| 作者单位： | 1. 解放军总医院,皮肤科,北京,100853 2. 国家人类基因组北方研究中心,北京,100176 |
| 摘 要： | 目的:分析常染色体显性遗传全白甲病家系的候选基因KLF7和CPO的突变。方法:对KLF7和CPO基因的全部外显子区域及邻近内含子区域进行PCR扩增,其产物进行直接测序,根据测序结果分析KLF7和CPO的基因突变。结果:在KLF7和CPO基因外显子区域及邻近内含子区域内检测到5个变异位点,未检测到致病的基因突变。结论:KLF7和CPO基因编码区域的变异不是此家系全白甲的致病基因突变。 |
| 关 键 词： | 遗传性全白甲 指(趾)甲 突变 |
| 文章编号： | 1005-1139（2007）03-0213-02 |
| 修稿时间： | 2006-06-282006-07-24 |
KLF7 and CPO gene mutation in a pedigree with hereditary leukonychia totalis |
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| XIE Fang,FENG Zheng,ZHANG Wen,LI Heng-jin,LIU Hong-jie. KLF7 and CPO gene mutation in a pedigree with hereditary leukonychia totalis[J]. Academic Journal of Pla Postgraduate Medical School, 2007, 28(3): 213-214 | |
| Authors: | XIE Fang FENG Zheng ZHANG Wen LI Heng-jin LIU Hong-jie |
| Affiliation: | 1. Department of Dermatology, PLA General Hospital, Beijing 100853, China; 2. Chinese National Center of Human Genome Research, Beijing 100176, China |
| Abstract: | Objective:To study KLF7 and CPO gene mutation in a pedigree with autosomal dominant hereditary leukonychia totalis.Methods:All exons of the two genes were amplified using polymerase chain reaction and then were subjected to automatic DNA sequencing to find the mutation.Results:Five mutations were found but the pathopoiesia mutation was not found in all exons and their flanking intronic sequences of the two genes.Conclusion: The diseases of the family with autosomal dominant hereditary leukonychia totalis are not caused by the mutation of exons and their flanking intronic sequences of KLF7 and CPO gene. |
| Keywords: | hereditary leukonychia totalis nails mutation |
| 本文献已被 CNKI 维普 万方数据 等数据库收录！ | |