毛囊角化病：对发病机制的当前认识及遗传学研究的未来作用
Darier's disease: current understanding of pathogenesis and future role of genetic studies.
作者信息
Berg D, Bassett A S
机构信息
Department of Medicine, University of Toronto Faculty of Medicine, Ontario, Canada.
出版信息
Int J Dermatol. 1993 Jun;32(6):397-400. doi: 10.1111/j.1365-4362.1993.tb02806.x.
Abstract
Darier’s disease is an uncommon skin disorder with autosomal dominant transmission. During the course of the investigation of a large family in which several members are affected with schizophrenia, it was found that many family members also suffer from Darier’s disease. Recent advances in molecular genetic techniques have made the identification of such families important for an understanding of the causes of inherited diseases. The role of genetic linkage analysis of Darier’s disease is discussed following a review of the current state of knowledge of its pathogenesis and genetics.
摘要
毛囊角化病是一种具有常染色体显性遗传的罕见皮肤病。在对一个有多名成员患精神分裂症的大家庭进行调查过程中，发现许多家庭成员也患有毛囊角化病。分子遗传学技术的最新进展使得识别此类家族对于理解遗传性疾病的病因具有重要意义。在回顾毛囊角化病发病机制和遗传学的当前知识状态之后，讨论了毛囊角化病基因连锁分析的作用。
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