培养的皮肤成纤维细胞和羊水细胞中酸性水解酶活性的变异性。
Variability of acid hydrolase activities in cultured skin fibroblasts and amniotic fluid cells.
作者信息
Young E, Willcox P, Whitfield A E, Patrick A D
出版信息
J Med Genet. 1975 Sep;12(3):224-9. doi: 10.1136/jmg.12.3.224.
Abstract
The specific activities of lysosomal hydrolases in cultured skin fibroblasts and amniotic fluid cells showed wide and unpredictable variations between cultures, which may lead to difficulty in differentiating normal, heterozygous, and homozygous cells. However, the variability for a given culture was similar for all enzymes assayed, so that a clearer differentiation of a relative deficiency of a given enzyme could be obtained by expressing its activity in ratio to that of another enzyme. Activity ratios were particularly useful in the evaluation of enzyme levels in cultured amniotic fluid cells. Results of their application to tests of pregnancies at risk for metachromatic leucodystrophy, Krabbe's leucodystrophy, GM1-gangliosidosis, and GM2-gangliosidosis (Sandhoff variant) are presented.
摘要
培养的皮肤成纤维细胞和羊水细胞中溶酶体水解酶的比活性在不同培养物之间表现出广泛且不可预测的差异，这可能导致区分正常、杂合和纯合细胞存在困难。然而，对于给定的培养物，所检测的所有酶的变异性相似，因此通过将一种酶的活性与另一种酶的活性进行比值表达，可以更清楚地区分给定酶的相对缺乏情况。活性比值在评估培养的羊水细胞中的酶水平时特别有用。本文介绍了其在对患异染性脑白质营养不良、克拉伯病、GM1神经节苷脂贮积症和GM2神经节苷脂贮积症（桑德霍夫变异型）风险妊娠进行检测中的应用结果。
相似文献
1
Variability of acid hydrolase activities in cultured skin fibroblasts and amniotic fluid cells.培养的皮肤成纤维细胞和羊水细胞中酸性水解酶活性的变异性。
J Med Genet. 1975 Sep;12(3):224-9. doi: 10.1136/jmg.12.3.224.
2
Krabbe's globoid cell leucodystrophy. Studies on galactosylceramide beta-galactosidase and non-specific beta-galactosidase of leucocytes, cultured skin fibroblasts, and amniotic fluid cells.克拉伯病（球形细胞脑白质营养不良症）。白细胞、培养的皮肤成纤维细胞及羊水细胞的半乳糖基神经酰胺β-半乳糖苷酶和非特异性β-半乳糖苷酶研究。
J Med Genet. 1976 Jun;13(3):195-9. doi: 10.1136/jmg.13.3.195.
3
Antenatal diagnosis of Krabbe's leucodystrophy: enzymatic and morphological confirmation in an affected fetus.克拉伯病的产前诊断：对一名患病胎儿的酶学和形态学确诊
J Neurol Neurosurg Psychiatry. 1978 Jan;41(1):76-82. doi: 10.1136/jnnp.41.1.76.
4
Krabbe's disease: first trimester diagnosis confirmed on cultured amniotic fluid cells and fetal tissues.
Prenat Diagn. 1987 Jun;7(5):329-32. doi: 10.1002/pd.1970070506.
5
The use of natural and artifical substrates in the prenatal diagnosis of Krabbe's disease.
J Inherit Metab Dis. 1978;1(3):115-8. doi: 10.1007/BF01805686.
6
Application of a galactosylceramidase microassay method to early prenatal diagnosis of Krabbe's disease.
Clin Chim Acta. 1982 Nov 10;125(3):265-73. doi: 10.1016/0009-8981(82)90256-x.
7
Considerations in the prenatal assessment of lysosomal enzyme deficiency in eight cases at risk.
Aust J Exp Biol Med Sci. 1977 Jun;55(3):253-62. doi: 10.1038/icb.1977.20.
8
Prenatal diagnosis of globoid cell leukodystrophy (Krabbe's diseases). Third documented case.
Hum Genet. 1977 Feb 11;35(2):193-6. doi: 10.1007/BF00393969.
9
Globoid cell (Krabbe's) leukodystrophy: heterozygote detection in cultured skin fibroblasts.球状细胞（克拉伯氏）脑白质营养不良：培养的皮肤成纤维细胞中杂合子的检测
Am J Hum Genet. 1973 Nov;25(6):604-9.
10
Problems in the application of cell culture to human genetics.细胞培养在人类遗传学应用中的问题。
Birth Defects Orig Artic Ser. 1974;10(10):14-8.
引用本文的文献
1
Prenatal diagnosis of lysosomal storage diseases.溶酶体贮积症的产前诊断
Brain Pathol. 1998 Jan;8(1):133-49. doi: 10.1111/j.1750-3639.1998.tb00141.x.
2
The effects of sucrose loading on lysosomal hydrolases.蔗糖负荷对溶酶体水解酶的影响。
Mol Cell Biochem. 1984;60(1):83-98. doi: 10.1007/BF00226302.
3
Neuraminidase deficiency: case report and review of the phenotype.神经氨酸酶缺乏症：病例报告及表型综述
J Med Genet. 1987 May;24(5):283-90. doi: 10.1136/jmg.24.5.283.
4
Culture conditions found to minimize false positive diagnosis of lysosomal storage disorders.已发现可将溶酶体贮积症假阳性诊断降至最低的培养条件。
In Vitro Cell Dev Biol. 1988 Dec;24(12):1159-64. doi: 10.1007/BF02624184.
5
Treatment of HL-60 cells with dimethyl sulphoxide inhibits the formation of beta-N-acetylhexosaminidase S.用二甲基亚砜处理HL-60细胞可抑制β-N-乙酰己糖胺酶S的形成。
Biochem J. 1990 Nov 15;272(1):211-5. doi: 10.1042/bj2720211.
6
Prenatal diagnosis of Hurler disease by analysis of alpha-iduronidase in chorionic villi.通过分析绒毛膜绒毛中的α-艾杜糖醛酸酶对黏多糖贮积症Ⅰ型进行产前诊断。
J Inherit Metab Dis. 1992;15(2):224-30. doi: 10.1007/BF01799636.
7
Juvenile Gaucher's disease with horizontal gaze palsy in three siblings.三名同胞患有伴有水平凝视麻痹的青少年戈谢病。
J Neurol Neurosurg Psychiatry. 1977 May;40(5):470-8. doi: 10.1136/jnnp.40.5.470.
8
The use of natural and artifical substrates in the prenatal diagnosis of Krabbe's disease.
J Inherit Metab Dis. 1978;1(3):115-8. doi: 10.1007/BF01805686.
本文引用的文献
1
Protein measurement with the Folin phenol reagent.使用福林酚试剂进行蛋白质测定。
J Biol Chem. 1951 Nov;193(1):265-75.
2
Cerebroside galactosidase: a method for determination and a comparison with other lysosomal enzymes in developing rat brain.脑苷脂半乳糖苷酶：发育中大鼠脑内的一种测定方法及与其他溶酶体酶的比较
J Neurochem. 1969 Apr;16(4):501-11. doi: 10.1111/j.1471-4159.1969.tb06849.x.
3
The influence of progressive growth on the specific catalase activity of human diploid cell strains. I. Effect of cellular genotype: homozygous strains.
J Cell Physiol. 1968 Apr;71(2):151-9. doi: 10.1002/jcp.1040710205.
4
Enzyme activity during the growth and aging of human cells in vitro.
J Cell Physiol. 1967 Jun;69(3):263-71. doi: 10.1002/jcp.1040690302.
5
Beta-glucosidase activity in fibroblasts from homozygotes and heterozygotes for Gaucher's disease.戈谢病纯合子和杂合子成纤维细胞中的β-葡萄糖苷酶活性。
Am J Hum Genet. 1971 Jan;23(1):62-6.
6
Ganglioside GM2 storage diseases: hexosaminidase deficiencies in cultured fibroblasts.神经节苷脂GM2贮积病：培养成纤维细胞中的己糖胺酶缺乏症
Am J Hum Genet. 1971 Jan;23(1):55-61.
7
A simplified assay method for galactosyl ceramide beta-galactosidase.
J Lipid Res. 1971 Mar;12(2):256-7.
8
Deficiency of acid esterase activity in Wolman's disease.沃尔曼病中酸性酯酶活性缺乏。
Arch Dis Child. 1970 Oct;45(243):664-8. doi: 10.1136/adc.45.243.664.
9
Deficiency of arylsulphatase A in leucocytes and skin fibroblasts in juvenile machromatic leucodystrophy.青少年型异染性脑白质营养不良患者白细胞和皮肤成纤维细胞中芳基硫酸酯酶A缺乏。
Nature. 1970 May 9;226(5245):553-4. doi: 10.1038/226553a0.
10
Leukocyte -galactosidase activity in GM 1 -gangliosidosis.
Pediatrics. 1972 Sep;50(3):502-3.
Zotero 插件