Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q
Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q
复制标题
表皮松解性角化过度与 12q 染色体上 II 型角蛋白基因簇的关联
作者：
J. Compton;J. DiGiovanna;S. Santucci;K. Kearns;C. Amos;D. Abangan;B. Korge;O. McBride;P. Steinert;S. Bale
我们研究了表皮角化过度症（EHK）的分子遗传学，EHK是一种以表皮起泡、角化过度、空泡变性和角蛋白细丝聚集为特征的显性疾病。基于这种病理，我们已经排除了连锁分析的几个候选基因的疾病，相反，获得了完整的连锁与II型角蛋白，K1，在12 q11-q13。使用其他几个标记证实了12号染色体这一区域的连锁，多位点连锁分析进一步支持了这一位置。角蛋白是优异的EHK基因候选物，因为它们的表达特异于基底上表皮层。在这里研究的家系中，一个II型角蛋白基因，很可能是K1，被牵连的网站的分子缺陷引起EHK。
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.
单纯性大疱性表皮松解症突变至 12 号染色体的定位。
影响因子：
9.8
作者：
Ryynänen,M;Knowlton,RG;Uitto,J
通讯作者：
Uitto,J
影响因子：
56.9
作者：
BONIFAS, JM;ROTHMAN, AL;EPSTEIN, EH
通讯作者：
EPSTEIN, EH