| 单纯型大疱性表皮松解症的角蛋白基因突变分析 |
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| 引用本文： | 汤华阳,高敏,崔勇,杜文辉,方巧云,周伏圣,杨森,杜卫东,张学军.单纯型大疱性表皮松解症的角蛋白基因突变分析[J].安徽医科大学学报,2008,43(2):208-211. |
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| 作者姓名： | 汤华阳 高敏 崔勇 杜文辉 方巧云 周伏圣 杨森 杜卫东 张学军 |
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| 作者单位： | 安徽医科大学第一附属医院皮肤性病科,合肥,230032;安徽医科大学皮肤病研究所,合肥,230032;教育部重要遗传病基因资源利用重点实验室,省部共建,合肥,230032;安徽医科大学皮肤病研究所,合肥,230032;教育部重要遗传病基因资源利用重点实验室,省部共建,合肥,230032 |
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| 摘 要： | 目的检测单纯型大疱性表皮松解症(EBS)致病基因角蛋白5(K5)和角蛋白14(K14)基因突变,分析基因型和表型之间的相关性。方法采用PCR和直接测序法对中国汉族人3个EBS家系进行K5基因和K14基因的突变检测,以100例健康人作为正常对照。结果K5基因发现2个突变,一个为移码突变c.1649delG,另一个为错义突变c.508G>A;K14基因发现一个错义突变,为c.1237G>A;在正常对照中未发现上述突变。结论K5或K14基因突变导致该3个家系中患者发病。
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| 关 键 词： | 表皮松解症 大疱性 单纯型/遗传学 角蛋白/遗传学 突变 |
| 文章编号： | 1000-1492(2008)02-0208-04 |
| 修稿时间： | 2008年3月17日 |
Analysis of keratin gene mutations in Chinese pedigrees with epidermolysis bullosa simplex |
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| Tang Huayang,Gao Min,Cui Yong,et al.Analysis of keratin gene mutations in Chinese pedigrees with epidermolysis bullosa simplex[J].Acta Universitis Medicinalis Anhui,2008,43(2):208-211. |
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| Authors: | Tang Huayang Gao Min Cui Yong |
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| Abstract: | Objective To detect the mutations of K5 and K14 gene in three Chinese families with epidermolysis bullosa simplex(EBS) and analyze the genotype-phenotype correlations.Methods All the coding exons of K5 and K14 gene of these patients and all available unaffected family members and 100 unrelated population-matched volunteers were amplified by polymerase chain reaction.The products were analyzed by direct sequencing.Results The frameshift mutation(c.1649delG) and missense mutation(c.508G>A)were identified in K5;another missense mutation(c.1237G>A)were identified in K14.Conclusion These mutations in K5 or K14 gene are responsible for the EBS in these three families. |
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| Keywords: | epidermolysis bullosa simplex/genetics keratin/genetics mutation |
| 本文献已被 CNKI 维普 万方数据 等数据库收录！ |
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