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Titolo:
Noninvasive test for fragile X syndrome, using hair root analysis
Autore:
Willemsen, R; Anar, B; Otero, YD; de Vries, BBA; Hilhorst-Hofstee, Y; Smits, A; van Looveren, E; Willems, PJ; Galjaard, H; Oostra, BA;
Indirizzi:
Erasmus Univ, Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands Erasmus Univ Rotterdam Netherlands NL-3000 DR DR Rotterdam, Netherlands Erasmus Univ, Ctr Biomed Genet, NL-3000 DR Rotterdam, Netherlands Erasmus Univ Rotterdam Netherlands NL-3000 DR DR Rotterdam, Netherlands Leiden Univ, Ctr Med, Dept Clin Genet, Leiden, Netherlands Leiden Univ Leiden Netherlands ed, Dept Clin Genet, Leiden, Netherlands Univ Nijmegen, Dept Human Genet, Nijmegen, Netherlands Univ Nijmegen Nijmegen Netherlands t Human Genet, Nijmegen, Netherlands
Titolo Testata:
AMERICAN JOURNAL OF HUMAN GENETICS
fascicolo: 1, volume: 65, anno: 1999,
pagine: 98 - 103
SICI:
0002-9297(199907)65:1<98:NTFFXS>2.0.ZU;2-M
Fonte:
ISI
Lingua:
ENG
Soggetto:
RAPID ANTIBODY-TEST; CGG REPEAT; FULL MUTATION; DIAGNOSIS; FMR-1; INSTABILITY; METHYLATION; CARRIERS; PROTEIN;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
24
Recensione:
Indirizzi per estratti:
Indirizzo: Oostra, BA Erasmus Univ, Dept Clin Genet, POB 1738, NL-3000 DR Rotterdam, Netherlands Erasmus Univ POB 1738 Rotterdam Netherlands NL-3000 DR erlands
Citazione:
R. Willemsen et al., "Noninvasive test for fragile X syndrome, using hair root analysis", AM J HU GEN, 65(1), 1999, pp. 98-103

Abstract

Identification of the FMR1 gene and the repeat-amplification mechanism causing fragile X syndrome led to development of reliable DNA-based diagnosticmethods, including Southern blot hybridization and PCR. Both methods are performed on DNA isolated from peripheral blood cells and measure the repeatsize in FMR1. Using an immunocytochemical technique on blood smears, we recently developed a novel test for identification of patients with fragile Xsyndrome. This method, also called "antibody test," uses monoclonal antibodies against the FMR1 gene product (FMRP) and is based on absence of FMRP in patients' cells. Here we describe a new diagnostic test to identify male patients with fragile X syndrome, on the basis of lack of FMRP in their hair roots. Expression of FMRP in hair roots was studied by use of an FMRP-specific antibody test, and the percentage of FMRP-expressing hair roots in controls and in male fragile X patients was determined. Control individuals showed clear expression of FMRP in nearly every hair root, whereas male fragile X patients lacked expression of FMRP in almost all their hair roots. Mentally retarded female patients with a full mutation showed FMRP expressionin only some of their hair roots (<55%), and no overlap with normal femalecontrols was observed. The advantages of this test are (1) plucking of hair follicles does no appreciable harm to the mentally retarded patient, (2) hairs can be sent in a simple envelope to a diagnostic center, and (3) the result of the test is available within 5 h of plucking. In addition, this test enabled us to identify two fragile X patients who did not show the fullmutation by analysis of DNA isolated from blood cells.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/03/20 alle ore 00:02:49