两个弥漫性掌跖角化病家系的病理特征与基因突变分析.pdfVIP

HEREDITAS (Beijing) 2007 3 , 29(3): 301―305 ISSN 0253-9772 研究报告 DOI: 10.1360/yc-007-0301 1 1 1 1 2 2 殷鑫浈 , 张宝荣 , 丁美萍 , 张灏 , 夏昆 , 胡正茂 1. , 310009; 2. , 410078 : 为了明确两个弥漫性掌跖角化病家系的临床、病理特征、角蛋白 9 在局部组织中的表达情况及 KRT9 基 因的突变, 对 2 名先证者的手掌皮肤进行组织病理学、免疫组织化学分析, 并用聚合酶链反应技术及直接测序 分析的方法, 对家系中 46 名成员的 KRT9 基因进行突变分析。发现两名先证者的表皮都呈显著的角化过度, 颗 粒层和棘层明显增厚, 真皮浅层有轻度的炎症细胞浸润, 上基底的棘层和颗粒层的角质形成细胞中都有特征性 的空泡变性存在; 角蛋白 9 只在棘层和颗粒层的角质形成细胞中特异性表达; 两个家系患者分别存在 KRT9 基 因的点突变 N160S 和 L167S; 说明这两个家系都属于表皮松解性掌跖角化病家系, KRT9 基因 N160S 和 L167S 突变分别导致这两个家系发病。 : 表皮松解性掌跖角化病; 角蛋白 9; KRT9 基因 Pathological features and gene mutation analysis in two pedigrees of diffuse palmoplantar keratoderma 1 1 1 1 2 YIN Xin-Zhen , ZHANG Bao-Rong , DING Mei-Ping , ZHANG Hao , XIA Kun , HU Zheng-Mao2 1. Department of Neurology, the Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310009, China; 2. National Lab of Medical Genetics of China, Central South University, Changsha 410078, China Abstract: We report the clinical and pathological features of two pedigrees of palmoplantar keratoderma (PPK), the ex- pression of keratin 9 (K9) in palm tissue and the mutation of the keratin 9 gene (KRT9). Histopathology and immunohisto- chemical assessment was performed to analyze the epidermis in the palm of the probands. Genomic DNA of 46 family indi- viduals was used for amplification of exon 1 of KRT9 . The mutations were determined by direct sequencing. Epidermal abnormalit