Hongzhou Cui, Shuping Guo, Wenju Wang, Li Li, Lulu Wei, Linjun Deng, Jingmin Li, Xiaoli Ren, Li Bai
Department of Dermatology, The First Hospital, Shanxi Medical University, Taiyuan, Shanxi 030001, PR China.
Department of Dermatology, The Second People's Hospital in Chengdu, Chengdu, Sichuan 610017, PR China.
J Dermatol Sci. 2017 Feb;85(2):71-76. doi: 10.1016/j.jdermsci.2016.09.002. Epub 2016 Sep 13.
In recent years, molecular biology has proven to be a great asset in our understanding of mechanisms in genodermatoses. However, bench to bedside translation research lags far behind. Advances in lab-on-a-chip technologies enabled programmable, reconfigurable, and scalable manipulation of a variety of laboratory procedures. Sample preparation, microfluidic reactions, and continuous monitoring systems can be integrated on a small chip. These advantages have attracted attention in various fields of clinical application including diagnosis of inherited skin diseases. This review lists an overview of the underlying genes and mutations and describes prospective application of lab-on-a-chip technologies as solutions to challenges for point-of-care genodematoses diagnosis.
近年来,分子生物学已被证明是我们理解遗传性皮肤病发病机制的一项重要资产。然而,从实验室到临床的转化研究却远远滞后。芯片实验室技术的进步实现了对各种实验室操作的可编程、可重构和可扩展的操控。样品制备、微流控反应和连续监测系统可集成在一个小芯片上。这些优势在包括遗传性皮肤病诊断在内的各种临床应用领域引起了关注。本综述列出了潜在基因和突变的概述,并描述了芯片实验室技术作为即时遗传性皮肤病诊断挑战解决方案的前瞻性应用。