摘要
表皮松解性掌跖角化症(EPPK)是一种较为常见的常染色体显性皮肤遗传病,目前尚无有效的治疗方法。本文总结了引起EPPK角蛋白异常的热点突变基因KRT9及其突变位点,KRT9作为可靠生物学标记已经成功应用于临床产前诊断,阐述角蛋白表达及其调控发病机制的突变Krt9基因敲入小鼠模型,以及靶向特异性sh RNA介导治疗EPPK等研究进展。
Epidermolytic palmoplantar keratoderma(EPPK) is a relatively common autosomal dominant skin genetic disorder caused by mutations in the keratin 9 gene(KRT9),with few therapeutic options for the affected so far. Here,the hot mutation sites of KRT9,KRT9 gene mutation as a reliable indicator applied in clinical prenatal molecular diagnosis of EPPK,the construction of Krt9 gene mutation knock-in mouse model,and the mutant-specific sh RNA-mediated treatment of EPPK were summarized.
出处
《中国优生与遗传杂志》
2017年第8期126-128,共3页
Chinese Journal of Birth Health & Heredity
基金
宁波市自然科学基金项目"基于单细胞测序的EPPK信号通路的发现"
基金号:2015A610187