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黑利-黑利病与毛囊角化病并非等位基因关系。

Hailey-Hailey disease is not allelic to Darier's disease.

作者信息

Welsh E A, Ikeda S, Peluso A M, Bonifas J M, Bare J W, Woodley D T, Epstein E H

机构信息

Department of Dermatology, Stanford University School of Medicine, California.

出版信息

J Invest Dermatol. 1994 Jun;102(6):992-3. doi: 10.1111/1523-1747.ep12384283.

Abstract

Hailey-Hailey (Familial Benign Chronic Pemphigus) Disease is a rare autosomal dominant disorder characterized by blisters caused by suprabasal epidermal acantholysis. Another autosomal dominant skin disease, Darier's disease, has clinical and histologic features which overlap those of Hailey-Hailey disease and recently has been mapped to chromosome 12q23-q24.1. We have used linkage analysis to test whether or not a mutation in this region might also underlie Hailey-Hailey disease. This analysis, using polymorphic loci tightly linked to Darier's disease, excluded this region as the site for the disease-causing mutation in two kindreds affected with Hailey-Hailey disease.

摘要

黑利-黑利病(家族性良性慢性天疱疮)是一种罕见的常染色体显性疾病,其特征为基底层上表皮棘层松解引起的水疱。另一种常染色体显性皮肤病——达里埃病,具有与黑利-黑利病重叠的临床和组织学特征,最近已被定位到12号染色体的q23-q24.1区域。我们通过连锁分析来检测该区域的突变是否也是黑利-黑利病的病因。这项分析使用了与达里埃病紧密连锁的多态性位点,排除了该区域是两个患黑利-黑利病家族致病突变位点的可能性。

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