Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique
| Autor: | A. M. W. Van Den Ouweland, Arie P. T. Smits, A. de Haan, Hans Galjaard, H.M. van Beerendonk, S. Mohkamsing, Erik A. Sistermans, Ben A. Oostra, B. B. A. De Vries, Rob Willemsen |
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| Přispěvatelé: | Human genetics, Amsterdam Reproduction & Development (AR&D), Clinical Genetics |
| Rok vydání: | 1997 |
| Předmět: |
Breuk-gevoelige plaatsen in chromosomen bij de mens
Male congenital hereditary and neonatal diseases and abnormalities (Fragile) breakage-prone sites in human chromosomes Nerve Tissue Proteins medicine.disease_cause law.invention Immunoenzyme Techniques Fragile X Mental Retardation Protein law Genetics medicine Humans GeneralLiterature_REFERENCE(e.g. dictionaries encyclopedias glossaries) Gene Genetics (clinical) Polymerase chain reaction Southern blot Mutation biology OVERIG ONDERZOEK MIES Antibodies Monoclonal RNA-Binding Proteins Methylation medicine.disease Molecular biology nervous system diseases Fragile X syndrome Evaluation Studies as Topic Fragile X Syndrome biology.protein Microsatellite Female Antibody |
| Zdroj: | Human Genetics, 99, 3, pp. 308-311 Human Genetics, 99(3), 308-311. Springer Verlag Human Genetics, 99, 308-311. Springer-Verlag Human Genetics, 99, 308-311 Human Genetics, 99, pp. 308-311 Willemsen, R, Smits, A, Mohkamsing, S, Van Beerendonk, H, De Haan, A, De Vries, B, Van Den Ouweland, A, Sistermans, E, Galjaard, H & Oostra, B A 1997, ' Rapid antibody test for diagnosing fragile X syndrome : A validation of the technique ', Human Genetics, vol. 99, no. 3, pp. 308-311 . https://doi.org/10.1007/s004390050363 |
| ISSN: | 1432-1203 0340-6717 |
| DOI: | 10.1007/s004390050363 |
| Popis: | To date, the identification of patients and carriers of the fragile X syndrome has been carried out by DNA analysis by means of the polymerase chain reaction and Southern blot analysis. This direct DNA analysis allows both the size of the CGG repeat and methylation status of the FMR1 gene to be determined. We have recently presented a rapid antibody test on blood smears based on the presence of FMRP, the protein product of the FMR1 gene, in lymphocytes from normal individuals and the absence of FMRP in lymphocytes from patients. Here, we have tested the diagnostic value of this new technique by studying FMRP expression in 173 blood smears from normal individuals and fragile X patients. The diagnostic power of the antibody test is 'perfect' for males, whereas the results are less specific for females. |
| Databáze: | OpenAIRE |
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