Abstract
Fragile X syndrome is caused by mutations in the FMR1 gene and is one of the most frequent forms of inherited mental retardation in males. Postnatal and prenatal diagnosis of fragile X syndrome is feasible by direct DNA analysis. A new approach to prenatal diagnosis of fragile X syndrome in amniotic fluid cells is described, using a rapid and simple antibody test on uncultured amniotic fluid cells. The test requires 1 ml of amniotic fluid and the results of this antibody test are available on the same day as the amniocentesis.
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Selected References
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- Hansen R. S., Gartler S. M., Scott C. R., Chen S. H., Laird C. D. Methylation analysis of CGG sites in the CpG island of the human FMR1 gene. Hum Mol Genet. 1992 Nov;1(8):571–578. doi: 10.1093/hmg/1.8.571. [DOI] [PubMed] [Google Scholar]
- Oostra B. A., Jacky P. B., Brown W. T., Rousseau F. Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation. J Med Genet. 1993 May;30(5):410–413. doi: 10.1136/jmg.30.5.410. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Rousseau F., Heitz D., Biancalana V., Blumenfeld S., Kretz C., Boué J., Tommerup N., Van Der Hagen C., DeLozier-Blanchet C., Croquette M. F. Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N Engl J Med. 1991 Dec 12;325(24):1673–1681. doi: 10.1056/NEJM199112123252401. [DOI] [PubMed] [Google Scholar]
- Verheij C., Bakker C. E., de Graaff E., Keulemans J., Willemsen R., Verkerk A. J., Galjaard H., Reuser A. J., Hoogeveen A. T., Oostra B. A. Characterization and localization of the FMR-1 gene product associated with fragile X syndrome. Nature. 1993 Jun 24;363(6431):722–724. doi: 10.1038/363722a0. [DOI] [PubMed] [Google Scholar]
- Verkerk A. J., deVries B. B., Niermeijer M. F., Fu Y. H., Nelson D. L., Warren S. T., Majoor-Krakauer D. F., Halley D. J., Oostra B. A. Intragenic probe used for diagnostics in fragile X families. 1992 Apr 15-May 1Am J Med Genet. 43(1-2):192–196. doi: 10.1002/ajmg.1320430132. [DOI] [PubMed] [Google Scholar]
- Willemsen R., Mohkamsing S., de Vries B., Devys D., van den Ouweland A., Mandel J. L., Galjaard H., Oostra B. Rapid antibody test for fragile X syndrome. Lancet. 1995 May 6;345(8958):1147–1148. doi: 10.1016/s0140-6736(95)90979-6. [DOI] [PubMed] [Google Scholar]
- Willemsen R., Oosterwijk J. C., Los F. J., Galjaard H., Oostra B. A. Prenatal diagnosis of fragile X syndrome. Lancet. 1996 Oct 5;348(9032):967–968. doi: 10.1016/s0140-6736(05)65388-3. [DOI] [PubMed] [Google Scholar]