Bruskina V Ia, Barer F S, Pavlova M N, Meerson E M
Tsitol Genet. 1980 Sep-Oct;14(5):21-6.
Ultrastructure of skin fibroblasts was studied in patients with mucopolysaccharidoses of types IV and VI and their relatives. In MPS VI and keratan-nonexcreting form of MPS IV the cytoplasm of fibroblasts contained numerous vacuoles with material of various electron density. The ultrastructure of cell did not differ from the norm in the keratan-excreting form of MPS IV. Skin fibroblasts from parents and siblings with MPS VI were found to contain a large number of residue bodies. The possible usage of ultrastructural data for early diagnosis of MPS and in medical genetic consultation of families of the patients with MPS is discussed.
对IV型和VI型黏多糖贮积症患者及其亲属的皮肤成纤维细胞超微结构进行了研究。在VI型黏多糖贮积症和IV型黏多糖贮积症的无角质素分泌型中，成纤维细胞的细胞质含有许多具有各种电子密度物质的液泡。IV型黏多糖贮积症的角质素分泌型细胞超微结构与正常情况无差异。发现患有VI型黏多糖贮积症的父母和兄弟姐妹的皮肤成纤维细胞含有大量残余小体。讨论了超微结构数据在黏多糖贮积症早期诊断及对黏多糖贮积症患者家庭进行医学遗传咨询中的可能应用。
