Compton J G, DiGiovanna J J, Santucci S K, Kearns K S, Amos C I, Abangan D L, Korge B P, McBride O W, Steinert P M, Bale S J
Skin Biology Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892.
Nat Genet. 1992 Jul;1(4):301-5. doi: 10.1038/ng0792-301.
We investigated the molecular genetics of epidermolytic hyperkeratosis (EHK), a dominant disorder characterized by epidermal blistering, hyperkeratosis, vacuolar degeneration and clumping of keratin filaments. Based on this pathology, we have excluded by linkage analysis several candidate genes for the disease; in contrast, complete linkage was obtained with the type II keratin, K1, on 12q11-q13. Linkage in this region of chromosome 12 was confirmed using several other markers, and multi-locus linkage analyses further supported this location. Keratins are excellent EHK gene candidates since their expression is specific to the suprabasal epidermal layers. In the pedigree studied here, a type II keratin gene, very probably K1, is implicated as the site of the molecular defect causing EHK.
我们研究了表皮松解性角化过度症（EHK）的分子遗传学，这是一种显性疾病，其特征为表皮水疱形成、角化过度、空泡变性以及角蛋白丝聚集。基于这种病理学特征，我们通过连锁分析排除了该疾病的几个候选基因；相反，在12q11 - q13上的II型角蛋白K1获得了完全连锁。使用其他几个标记证实了12号染色体该区域的连锁，多位点连锁分析进一步支持了这一位置。角蛋白是EHK基因的优秀候选者，因为它们的表达仅限于基底上层表皮。在本研究的家系中，一个II型角蛋白基因，很可能是K1，被认为是导致EHK的分子缺陷位点。
