Hennies H C, Hagedorn M, Reis A
Institute of Human Genetics, Virchow-Klinikum, Humboldt-Universität zu Berlin, Germany.
Genomics. 1995 Sep 20;29(2):537-40. doi: 10.1006/geno.1995.9971.
Palmoplantar keratoderma is a group of hereditary disorders of keratinization involving hyperkeratosis of palms and soles. Two different forms of palmoplantar keratoderma have recently been shown to be caused by mutations in the body site-specific keratin 9 gene and in the keratin 1 gene, respectively. Now we have analyzed a large German family with autosomal dominantly inherited palmoplantar keratoderma in association with carcinoma of the esophagus. Linkage to both the type I keratin gene cluster on chromosome 17q distal to the type I keratin genes. Two-point linkage data at D17S801 gave a lod score Zmax - 5.1 at theta = 0.00. Therefore, palmoplantar keratoderma is shown to be heterogeneous clinically as well as genetically and may be caused by mutations in keratins as well as in nonkeratins.
掌跖角化病是一组涉及手掌和足底角化过度的遗传性角化障碍性疾病。最近已表明，两种不同形式的掌跖角化病分别由身体部位特异性角蛋白9基因和角蛋白1基因的突变引起。现在我们分析了一个患有常染色体显性遗传掌跖角化病并伴有食管癌的大型德国家族。与位于17号染色体长臂上I型角蛋白基因远端的I型角蛋白基因簇连锁。在D17S801处的两点连锁数据在θ=0.00时给出了最大对数似然值Zmax - 5.1。因此，掌跖角化病在临床和遗传上均表现为异质性，可能由角蛋白以及非角蛋白的突变引起。
