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异染性脑白质营养不良(MLD)是一种常染色体隐性遗传病,起因为溶酶体芳基硫酸酯酶A(ASA)缺陷,产前诊断主要依靠羊水细胞培养及ASA的活性分析。孕早期的绒毛活检技术可以提早进行诊断并缩短诊断所需时间,但过去有人将此应用于MLD的诊断,却出现了假阴性现象。为了探讨绒毛组织在MLD产前诊断中的适用性,本文以皮肤成纤维细胞做对照,对绒毛ASA的特性进行了研究。以对硝基儿茶酚硫酸盐(NCS)为底物进行ASA的测定分析。利用柱层析和电泳技术对芳基硫酸酯酶同工酶进行分离或定量研究。结果表明,绒毛和成纤维细胞中的ASA特性有所不同,包括酶的最适pH值、Km值和酶的分解曲
Metabolic Leukodystrophy (MLD) is an autosomal recessive disorder that is caused by defects in lysosomal aryl sulfatase A (ASA). Prenatal diagnosis depends primarily on amniotic fluid cell culture and activity analysis of ASA. Early trimester villus biopsy can be diagnosed and shorten the diagnosis of the required time, but in the past some people apply the diagnosis of MLD, but there have been false negatives. In order to investigate the applicability of chorionic tissue in the prenatal diagnosis of MLD, the characteristics of chorionic villus ASA were studied in this paper with the control of dermal fibroblasts. ASA assay was performed using p-nitrocatechin sulfate (NCS) as a substrate. Arylsulfatase isozymes were isolated or quantified by column chromatography and electrophoresis. The results showed that the ASA characteristics in villi and fibroblasts varied, including the optimum pH of the enzyme, the Km value, and the breakdown of the enzyme