中华皮肤科杂志 ›› 2020, Vol. 53 ›› Issue (4): 244-247.doi: 10.35541/cjd.20200240

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单基因遗传性皮肤病研究的历史、现状与展望

杨勇   

  1. 中国医学科学院  北京协和医学院  皮肤病医院遗传病中心,南京  210042
  • 收稿日期:2020-03-12 修回日期:2020-03-17 发布日期:2020-04-01
  • 通讯作者: 杨勇 E-mail:yyang@pumcderm.cams.cn
  • 基金资助:
    国家自然科学基金杰出青年基金(81425020);中国医学科学院医学与健康科技创新工程项目(2018-I2M-3-006)

Single-gene skin disease research: past, present and prospect

Yang Yong   

  1. Genetic Skin Disease Center, Hospital for Skin Disease, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing 210042, China
  • Received:2020-03-12 Revised:2020-03-17 Published:2020-04-01
  • Contact: YANG Yong E-mail:yyang@pumcderm.cams.cn
  • Supported by:
    National Science Foundation for Distinguished Young Scholars (81425020); CAMS Innovation Fund for Medical Sciences (2018-I2M-3-006)

摘要: 【摘要】 单基因遗传性皮肤病包括近1 000种表型不同的疾病,其病因及发病机制研究在近30年中取得很多重大进展,我国皮肤科专家也在其中发挥了重要作用。随着技术的进步,基因检测现已成为明确诊断的常规手段,发现和探明新型和重要单基因遗传性皮肤病的机会在逐渐减少,本领域研究的重心将逐步过渡到非经典的遗传性皮肤病及基因治疗。

关键词: 遗传性疾病, 先天性; 皮肤疾病; DNA突变分析; 基因诊断; 基因治疗

Abstract: 【Abstract】 Single-gene skin diseases include nearly 1 000 kinds of diseases with different phenotypes. A lot of significant progress has been made in research on their etiology and pathogenesis in the past 30 years, and Chinese dermatologists have played an important role in this process. With the advancement of technology, genetic testing has become a routine means of diagnosis. The chance of discovering new and important single-gene skin diseases is gradually decreasing. The focus of research in this field will gradually shift to non-classical genetic skin diseases and gene therapy.

Key words: Genetic diseases, inborn, Skin diseases, DNA mutational analysis, Genetic diagnosis, Genetic therapy

引用本文

杨勇. 单基因遗传性皮肤病研究的历史、现状与展望[J]. 中华皮肤科杂志, 2020,53(4):244-247. doi:10.35541/cjd.20200240

Yang Yong. Single-gene skin disease research: past, present and prospect[J]. Chinese Journal of Dermatology, 2020, 53(4): 244-247.doi:10.35541/cjd.20200240