无汗 /少汗性外胚层发育不良 (EDA)是一种以汗腺、毛发及牙齿等外胚层起源的组织发育缺陷为主要特征的 X连锁遗传性皮肤病。其致病基因定位于 Xq12 - q13.1,并已获得了该候选基因的 c DNA克隆。研究表明 ,EDA基因含有 9个外显子 ,编码一种跨膜的蛋白质产物 ,后者可能在上皮—附属器的形态发育中起重要作用。分子遗传学研究为最终实现本病的基因诊断与基因治疗展示了良好的前景 Anaerobic / sweat-less ectodermal dysplasia (EDA) is an X-linked hereditary dermatosis characterized mainly by tissue developmental defects originating from ectoderm such as sweat glands, hair and teeth. Its virulence gene is located at Xq12 - q13.1, and the c DNA clone of this candidate gene has been obtained. Studies have shown that the EDA gene contains nine exons and encodes a transmembrane protein product that may play an important role in epithelial-adherent morphogenesis. Molecular genetic studies have shown promising prospects for the ultimate realization of genetic diagnosis and gene therapy of this disease