Yuen M, Fensom A H
J Inherit Metab Dis. 1985;8(2):80-6. doi: 10.1007/BF01801671.
The tritiated disulphated trisaccharide 6-sulpho-N-acetylgalactosamine-glucuronic acid-6-sulpho-N-acetyl-[1-3H]galactosaminitol was prepared from chondroitin 6-sulphate for use as a substrate for N-acetylgalactosamine 6-sulphate sulphatase. The reaction product was separated on ECTEOLA cellulose rather than Dowex 1 X 2. The mean activities of normal fibroblasts, leukocytes and amniotic cells were 8.43, 2.59 and 3.14 nmol h-1 mg protein-1, respectively. Fibroblasts from five patients with classical Morquio's disease (mucopolysaccharidosis IVA; MPSIVA) and one patient with neonatal multiple sulphatase deficiency displayed activities of less than 5% of control mean. Activity in amniotic cells from a pregnancy where the fetus was affected with MPS IVA was 6% of control mean. Activity was also found to be present in normal specimens of chorionic villi (mean value 1.21 nmol h-1 mg protein-1), demonstrating the feasibility of first trimester prenatal diagnosis of MPS IVA by assay of activity in this tissue.
用硫酸软骨素6 - 硫酸酯制备了氚标记的双硫酸化三糖6 - 硫酸 - N - 乙酰半乳糖胺 - 葡萄糖醛酸 - 6 - 硫酸 - N - 乙酰 - [1 - ³H]半乳糖胺醇，用作N - 乙酰半乳糖胺6 - 硫酸酯硫酸酯酶的底物。反应产物在ECTEOLA纤维素上分离，而不是在Dowex 1 X 2上分离。正常成纤维细胞、白细胞和羊膜细胞的平均活性分别为8.43、2.59和3.14 nmol h⁻¹ mg蛋白⁻¹。五名典型莫尔基奥氏病（粘多糖贮积症IVA型；MPSIVA）患者和一名新生儿多重硫酸酯酶缺乏症患者的成纤维细胞活性低于对照平均值的5%。一名胎儿受MPS IVA影响的孕妇羊膜细胞活性为对照平均值的6%。在绒毛膜绒毛正常标本中也发现有活性（平均值为1.21 nmol h⁻¹ mg蛋白⁻¹），这表明通过检测该组织中的活性对MPS IVA进行孕早期产前诊断是可行的。
