嵌合突变在显性营养不良型大疱性表皮松解症中的研究进展

Genetic mosaicism in dominant dystrophic epidermolysis bullosa

显性营养不良型大疱性表皮松解症是一种编码Ⅶ型胶原蛋白的COL7A1基因突变导致皮损的遗传性皮肤病，其临床表现为皮肤经摩擦后产生水疱、糜烂、结痂，愈后留有瘢痕及萎缩。近年发现，显性营养不良型大疱性表皮松解症患者的不发病父母可能存在生殖腺嵌合现象。随着对嵌合突变研究的日渐成熟，更深入地了解嵌合突变与显性营养不良型大疱性表皮松解症临床表型之间的相关性，认识显性营养不良型大疱性表皮松解症的发生。在对后代进行遗传风险咨询时，考虑是否存在生殖系嵌合对产前基因诊断有很大的帮助。

Dominant dystrophic epidermolysis bullosa （DDEB） is a genetic skin disease caused by mutations in the COL7A1 gene encoding type VII collagen, and is clinically characterized by blisters, erosions and crusting after skin friction which will heal leaving scars and atrophy. Recent studies have shown the presence of gonadosomatic mosaicism in unaffected parents of patients with DDEB. The development of relevant researches has enriched our knowledge about the relationship between genetic mosaicism and clinical phenotypes of DDEB, as well as about the occurrence of DDEB. During genetic counseling for the risk of DDEB in offspring, to take into account gonadosomatic mosaicism is of great value in prenatal genetic diagnosis.