Rapid tissue culture and microbiochemical methods for analyzing colonially grown fibroblasts from normal, Lesch-Nyhan and Tay-Sachs patients and amniotic fluid cells
| Autor: | B. J. Richardson, David M Cox |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
Lesch-Nyhan Syndrome
Prenatal diagnosis Biology Lipidoses Tritium Tissue culture Culture Techniques Prenatal Diagnosis Methods Genetics medicine Humans Hexosaminidase Carbon Radioisotopes Pentosyltransferases Cells Cultured Genetics (clinical) Skin chemistry.chemical_classification Amniotic fluid cells medicine.diagnostic_test HGPRTase activity Phosphoribosyl transferase Fibroblasts Amniotic Fluid Molecular biology Hexosaminidases Enzyme chemistry Amniocentesis Metabolism Inborn Errors |
| Zdroj: | Clinical Genetics. 4:376-380 |
| ISSN: | 1399-0004 0009-9163 |
| DOI: | 10.1111/j.1399-0004.1973.tb01163.x |
| Popis: | A means of reducing the time interval between amniocentesis and biochemical analysis for the prenatal diagnosis of biochemical diseases is presented. Fibroblasts from nomal individuals, patients with Lesch-Nyhan syndrome and patients with Tay-Sachs disease, and normal amniotic fluid cells, were grown in isolation in MicroTest II tissue culture plates. Hypoxanthine-guanine phosphoribosyl transferase (HGPRTase) and hexosaminidase A were studied in independently derived colonies arising after a median culture period of 14 days. Colony six ranged from 2,000 to 8,000 cells. HGPRTase activity, expressed as the ratio of hypoxanthine-C14 to adenine-113 uptake, was assayed using differential scintillation spectrometry. Hexosaminidase A was investigated by micro-electrophoresis. Discrimination of enzyme deficient from non-deficient colonies was accomplished in each case and both enzymes were detectable in amniotic fluid cell colonies. The potential of the method for prenatal diagnosis of the two diseases studied and of biochemical diseases in general is discussed. |
| Databáze: | OpenAIRE |
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