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皮肤中的返祖镶嵌现象。

Revertant mosaicism in the skin.

机构信息

Department of Dermatology, King Edward VII Hospital, Windsor, UK.

出版信息

G Ital Dermatol Venereol. 2013 Feb;148(1):73-82.

Abstract

Revertant mosaicism is a naturally occurring phenomenon involving the spontaneous correction of a pathogenic mutation in a somatic cell. Revertant mosaicism is not a rare event and has been described in several inherited skin conditions, including various subtypes of epidermolysis bullosa. The recognition of revertant mosaicism paves the way for revertant therapy which represents a potentially exciting "natural gene therapy" option for genetic disorders. The skin provides a useful model for studying revertant mosaicism because it is readily accessible and easy to examine. In this paper, we provide an overview of revertant mosaicism and its relevance in genetic skin disorders.

摘要

返祖镶嵌现象是一种自然发生的现象,涉及体细胞中致病突变的自发纠正。返祖镶嵌现象并不罕见,已在几种遗传性皮肤疾病中得到描述,包括各种亚型的大疱性表皮松解症。对返祖镶嵌现象的认识为返祖治疗铺平了道路,这是一种有潜力的令人兴奋的“自然基因治疗”选择,适用于遗传疾病。皮肤是研究返祖镶嵌现象的有用模型,因为它易于接近且易于检查。在本文中,我们提供了返祖镶嵌现象及其在遗传性皮肤疾病中的相关性的概述。

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