Homocystinuria: Investigations of cystathionine synthase in cultured fetal cells and the prenatal determination of genetic status
| Autor: | Gerald E. Gaull, Kurt Hirschhorn, Lynn D. Fleisher, Nicholas G. Beratis, Riccardo C. Longhi, Harris H. Tallan |
|---|---|
| Rok vydání: | 1974 |
| Předmět: |
Adult
Biopsy Prenatal diagnosis Homocystinuria Cystathionine Fetus Prenatal Diagnosis medicine Humans Amino Acids Child Cells Cultured Hydro-Lyases Skin chemistry.chemical_classification biology Amniotic fluid cells ATP synthase business.industry Heterozygote advantage Clinical Enzyme Tests Fibroblasts medicine.disease Cystathionine beta synthase Molecular biology Enzyme chemistry Pediatrics Perinatology and Child Health biology.protein Biological Assay business |
| Zdroj: | The Journal of Pediatrics. 85:677-680 |
| ISSN: | 0022-3476 |
| DOI: | 10.1016/s0022-3476(74)80516-0 |
| Popis: | CYSTATHIONINE SYNTHASE DEFICIENCY (Fig. 1), which is inherited in an autosomal recessive manner , results in the clinical syndrome of homocystinuria. The full clinical picture is distinct 1 and may include dislocation of the optic lenses, progressive skeletal changes, severe t h r o m b o e m b o l i c disease , and, of ten, var iable degrees of mental retardation. Synthase activity, and its absence in affected individuals, has been demonstrated in liver and brain2,3,7; more recently it has been found in cultured skin fibroblasts 4, 6 and phytohemagglutininstimulated lymphocytes, s Heterozygotes can now be distinguished from patients and from normal individuals by determinat ion of synthase activity in cultured skin fibroblasts. 6 The utilization of cultured skin fibroblasts in the diagnosis of numerous enzymatic disorders often has been followed by attempts a t spec i f ic prenatal diagnosis by assay of cultured amniotic fluid cells. However, in order to establish proper control data, it is essential to determine optimal assay conditions for cultured amniotic |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|