Kelsell D P, Stevens H P, Ratnavel R, Bryant S P, Bishop D T, Leigh I M, Spurr N K
Human Genetic Resources, Clare Hall Laboratories, Imperial Cancer Research Fund, Potters Bar, Herts, UK.
Hum Mol Genet. 1995 Jun;4(6):1021-5. doi: 10.1093/hmg/4.6.1021.
The palmoplantar keratodermas (PPK) are a group of skin diseases characterized by thickening of the skin of the palms and soles due to abnormal keratinization. We have performed linkage analysis on families affected with three distinct forms of non-epidermolytic PPK (NEPPK): focal, diffuse and punctate. Genetic heterogeneity was demonstrated, with focal NEPPK linked to the region on chromosome 17 harbouring the type I keratin cluster, diffuse NEPPK linked to the region on chromosome 12 containing the type II keratin cluster, and in the punctate NEPPK pedigrees, linkage was excluded to both of these keratin clusters. This study provides evidence for genetic differences between these forms of NEPPK and also between NEPPK and epidermolytic PPK (EPPK) in which mutations in keratin 9 have been demonstrated.
掌跖角化病（PPK）是一组皮肤疾病，其特征是由于异常角化导致手掌和脚底皮肤增厚。我们对患有三种不同形式的非表皮松解性掌跖角化病（NEPPK）的家族进行了连锁分析：局限性、弥漫性和点状。研究表明存在遗传异质性，局限性NEPPK与17号染色体上包含I型角蛋白簇的区域连锁，弥漫性NEPPK与12号染色体上包含II型角蛋白簇的区域连锁，而在点状NEPPK家系中，排除了与这两个角蛋白簇的连锁关系。这项研究为这些形式的NEPPK之间以及NEPPK与已证实角蛋白9发生突变的表皮松解性掌跖角化病（EPPK）之间的遗传差异提供了证据。
