Odinokova O N, Bialik M A, Krasnopol'skaia K D, Iakovlev S A
Vopr Med Khim. 1986 Jan-Feb;32(1):87-92.
A system for detection and diagnostication of mucopolysaccharidoses (MPS) was organized to ensure the medico-genetic service of the families, where these diseases occurred. Content of intracellular and urinary glycosaminoglycans (GAG) was studied by means of a number of methods in various types of MPS. Amount of excreted GAG's was expressed as relative units to reduce the age differences. In all the patients with MPS hyperexcretion of GAG's was found, except of some cases of MPS IV, as well as the spectrum of non-dialyzed and cetyl pyridinium chloride precipitated GAG's was altered, where the latter fraction was increased and high molecular GAG's were also prevailed as compared with normal state. All the patients were divided into four classes depending on the spectrum of GAG's excreted as shown by means of electrophoresis. The data obtained in estimation of GAG's using electrophoretic technique corresponded to the results of column chromatographic analyses but the electrophoretic procedure was distinctly less labour-consuming.
组建了一个黏多糖贮积症(MPS)检测与诊断系统,以确保为罹患这些疾病的家庭提供医学遗传服务。通过多种方法研究了各类MPS中细胞内和尿中糖胺聚糖(GAG)的含量。排泄的GAG量以相对单位表示,以减少年龄差异。在所有MPS患者中,除部分MPS IV病例外,均发现GAG排泄过多,且未透析和经十六烷基氯化吡啶沉淀的GAG谱发生改变,其中后一部分增加,与正常状态相比,高分子量GAG也占优势。根据电泳显示的GAG排泄谱,将所有患者分为四类。使用电泳技术评估GAG所获得的数据与柱色谱分析结果一致,但电泳程序明显更省力。