Beratis N G, Danesino C, Hirschhorn K
Ann Hum Genet. 1975 May;38(4):485-93. doi: 10.1111/j.1469-1809.1975.tb00638.x.
Assays of arylsulphatase A have been performed on peripheral leukocytes and lymphoid cell lines from normal subjects and heterozygotes and homozygotes for metachromatic leukodystrophy (MLD) by utilizing an improved procedure based on the removal of excess protein from the final digest. No overlap of arylsulphatase A activity was observed between peripheral leukocytes obtained from 11 normal donors, 8 heterozygotes and 5 homozygotes for MLD. Absence of enzyme activity was demonstrated in the patients' leukocytes, when the modified assay procedure was employed. Arylsulphatase A activity (mean +/- S.D.) in 30 lymphoid lines and sublines established from 18 normal donors, 2 heterozygotes and 1 homozygote for MLD was 54-5 +/- 23-1, 24-1 +/- 3-2 and 0-9, respectively. The enzymic activity of arylsulphatase A and B remained stable over a period of several months. These findings indicate that long-term lymphoid lines express the genotype of the donor and maintain enzyme stability over long periods in culture. Moreover, it appears that peripheral leukocytes are a reliable system for the identification of the carrier state of MLD.
通过采用一种基于从最终消化物中去除过量蛋白质的改进方法，对来自正常受试者以及异染性脑白质营养不良（MLD）杂合子和纯合子的外周血白细胞和淋巴细胞系进行了芳基硫酸酯酶A的检测。在从11名正常供体、8名杂合子和5名MLD纯合子获得的外周血白细胞之间，未观察到芳基硫酸酯酶A活性的重叠。当采用改良的检测方法时，患者白细胞中未显示出酶活性。从18名正常供体、2名杂合子和1名MLD纯合子建立的30个淋巴细胞系和亚系中，芳基硫酸酯酶A活性（平均值±标准差）分别为54.5±23.1、24.1±3.2和0.9。芳基硫酸酯酶A和B的酶活性在几个月的时间内保持稳定。这些发现表明，长期淋巴细胞系表达供体的基因型，并在长期培养中保持酶的稳定性。此外，外周血白细胞似乎是鉴定MLD携带者状态的可靠系统。
