Raghunath M, Hennies H C, Velten F, Wiebe V, Steinert P M, Reis A, Traupe H
Department of Dermatology, University of Münster, Germany.
Arch Dermatol Res. 1998 Nov;290(11):621-7. doi: 10.1007/s004030050362.
Autosomal recessive congenital ichthyoses are disorders of epidermal cornification, but are clinically and etiologically heterogeneous. Some cases, known as lamellar ichthyosis, are caused by mutations in the TGM1 gene encoding transglutaminase 1, which result in markedly diminished or lost enzyme activity and/or protein. In some cases, this enzyme is present but there is little detectable activity, and in other clinically similar cases, transglutaminase 1 levels appear to be normal. Since conventional enzyme assays and mutational analyses are tedious, we developed a novel assay for the rapid screening of transglutaminase 1 activity using covalent incorporation of biotinylated substrate peptides into skin cryostat sections. Coupled with immunohistochemical assays using transglutaminase 1 antibodies, our method allows rapid identification of those cases caused by alterations in this enzyme.
常染色体隐性先天性鱼鳞病是表皮角质化疾病，但在临床和病因上具有异质性。一些病例，即板层状鱼鳞病，是由编码转谷氨酰胺酶1的TGM1基因突变引起的，这些突变导致酶活性和/或蛋白质显著降低或丧失。在某些情况下，这种酶存在但几乎检测不到活性，而在其他临床相似的病例中，转谷氨酰胺酶1水平似乎正常。由于传统的酶检测和突变分析繁琐，我们开发了一种新的检测方法，利用生物素化底物肽共价掺入皮肤冷冻切片中快速筛选转谷氨酰胺酶1活性。结合使用转谷氨酰胺酶1抗体的免疫组织化学检测，我们的方法能够快速识别由该酶改变引起的病例。
