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Analysis of Mutations in COL7A1 Gene in a Hallopeau-Siemens Variant of Recessive Dystrophic Epidermolysis Bullosa
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- Author:
- No author available
- Journal Title:
- CHINESE JOURNAL OF DERMATOLOGY
- Issue:
- 10
- DOI:
- 10.3760/j.issn:0412-4030.2005.10.001
- Key Word:
- 表皮松解,大疱性,营养不良性;密码子,无义;突变,误义
Abstract： 目的鉴定一常染色体隐性遗传营养不良型大疱性表皮松解症家系的基因突变.方法应用PCR、DNA直接测序明确突变位点,根据突变位点设计特异性引物,用PCR检测突变位点从而进一步确定该家系的致病原因.结果发现该患者COL7A1基因的一条等位基因第2号外显子上存在S48P的错义突变,而另一条等位基因第27号外显子上存在3625del11缺失突变,造成编码区阅读框架的移位,最终导致蛋白终止密码(PTC)的产生.隐性营养不良型大疱性表皮松解症患者这种两个突变的组合在国际上为首次报道.结论COL7A1基因的缺失突变和错义突变引起该患者临床症状的特异突变.
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