Pulkkinen L, Christiano A M, Knowlton R G, Uitto J
Department of Dermatology, Jefferson Medical College, Thomas Jefferson University, Philadelphia, Pennsylvania 19107.
J Clin Invest. 1993 Jan;91(1):357-61. doi: 10.1172/JCI116193.
Epidermolytic hyperkeratosis (EHK) is an autosomal dominant genodermatosis characterized by hyperkeratosis and blistering of the skin. Histopathology demonstrates suprabasilar blister formation with aggregation of tonofilaments. In this study, we tested the hypothesis that the EHK phenotype is linked to one of the suprabasilar keratins (KRT10 or KRT1) present in the types I and II keratin gene clusters in chromosomes 17q and 12q, respectively. For this purpose, Southern hybridizations were performed with DNA from a large kindred with EHK, consisting of 11 affected individuals in three generations. Segregation analysis with markers flanking the keratin gene clusters demonstrated linkage (Z = 3.61 at theta = 0) to a locus on 12q, while markers on 17q were excluded. These data implicate KRT1, the type II keratin expressed in suprabasilar keratinocytes, as a candidate gene in this family with EHK.
表皮松解性角化过度（EHK）是一种常染色体显性遗传性皮肤病，其特征为皮肤角化过度和水疱形成。组织病理学显示基底上水疱形成，伴有张力细丝聚集。在本研究中，我们检验了这样一个假说：EHK表型与分别位于17号染色体和12号染色体上的I型和II型角蛋白基因簇中的一种基底上角蛋白（KRT10或KRT1）有关。为此，我们对一个患EHK的大家系的DNA进行了Southern杂交分析，该家系三代中有11名患者。对角蛋白基因簇侧翼标记的分离分析表明，与12号染色体上的一个位点存在连锁关系（在θ = 0时，Z = 3.61），而排除了17号染色体上的标记。这些数据表明，在基底上角质形成细胞中表达的II型角蛋白KRT1是这个患EHK家系中的一个候选基因。
