Fukuda M, Tanaka A, Isshiki G
Department of Pediatrics, Osaka City University School of Medicine, Japan.
J Inherit Metab Dis. 1990;13(6):862-6. doi: 10.1007/BF01800210.
The activities of 14 lysosomal enzymes in chorionic villi at gestational ages of 6-12 weeks were assayed. Arylsulphatases A and B, alpha-glucosidase and beta-glucuronidase activities increased with advancing gestational age. When compared with the activity in cultured amniotic fluid cells, arylsulphatase A, beta-galactosidase, alpha-glucosidase, heparan N-sulphatase, alpha-L-iduronidase, alpha-mannosidase, neuraminidase, and sphingomyelinase showed significant differences. All except beta-glucuronidase showed lower activity in chorionic villi than in cultured amniotic fluid cells. Prenatal diagnosis using chorionic villi was possible except for alpha-L-iduronidase. Storage at -20 degrees C up to 42 days did not significantly affect activity. The results emphasize the importance of using fresh or frozen age-matched control tissue for diagnosis.
检测了孕6 - 12周绒毛膜绒毛中14种溶酶体酶的活性。芳基硫酸酯酶A和B、α - 葡萄糖苷酶和β - 葡萄糖醛酸酶的活性随孕周增加而升高。与培养的羊水细胞中的活性相比,芳基硫酸酯酶A、β - 半乳糖苷酶、α - 葡萄糖苷酶、硫酸乙酰肝素N - 硫酸酯酶、α - L - 艾杜糖醛酸酶、α - 甘露糖苷酶、神经氨酸酶和鞘磷脂酶存在显著差异。除β - 葡萄糖醛酸酶外,所有酶在绒毛膜绒毛中的活性均低于培养的羊水细胞。除α - L - 艾杜糖醛酸酶外,使用绒毛膜绒毛进行产前诊断是可行的。在-20℃下储存长达42天对活性没有显著影响。结果强调了使用新鲜或冷冻的年龄匹配对照组织进行诊断的重要性。