Prenatal molecular diagnosis of Gaucher disease
| Autor: | A. Abrahamgv, Wanda Kuhl, Ari Zimran, Ernest Beutler, Deborah Elstein, K. H. Brown |
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| Rok vydání: | 1995 |
| Předmět: |
Proband
Adult congenital hereditary and neonatal diseases and abnormalities Pathology medicine.medical_specialty Genotype Genetic counseling DNA Mutational Analysis Prenatal diagnosis Disease Pregnancy Prenatal Diagnosis medicine Diseases in Twins Humans Genetics (clinical) Fetus Gaucher Disease medicine.diagnostic_test business.industry Obstetrics and Gynecology Phenotype Immunology Amniocentesis Female business Glucocerebrosidase |
| Zdroj: | Prenatal diagnosis. 15(12) |
| ISSN: | 0197-3851 |
| Popis: | Prenatal diagnosis of Gaucher disease, the most prevalent glycolipid storage disease, is based on a reliable enzyme assay of cells from amniocentesis or chorionic villous samples. However, this method cannot differentiate among the various forms of the disease. This report details four cases of prenatal diagnosis of Gaucher disease, three of which predate the use of molecular diagnosis. DNA mutation analysis to determine the genotype was predictive of the phenotypic status of the fetus and conformed to the genotype of an affected proband where available. |
| Databáze: | OpenAIRE |
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