Human Genetics

, Volume 99, Issue 3, pp 308–311

Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique

  • R. Willemsen
  • Arie Smits
  • Serieta Mohkamsing
  • H. van Beerendonk
  • Anton de Haan
  • B. de Vries
  • A. van den Ouweland
  • Erik Sistermans
  • Hans Galjaard
  • B. A. Oostra
Original investigation

DOI: 10.1007/s004390050363

Cite this article as:
Willemsen, R., Smits, A., Mohkamsing, S. et al. Hum Genet (1997) 99: 308. doi:10.1007/s004390050363

Abstract

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.

Copyright information

© Springer-Verlag Berlin Heidelberg 1997

Authors and Affiliations

  • R. Willemsen
    • 1
  • Arie Smits
    • 2
  • Serieta Mohkamsing
    • 1
  • H. van Beerendonk
    • 2
  • Anton de Haan
    • 3
  • B. de Vries
    • 1
  • A. van den Ouweland
    • 1
  • Erik Sistermans
    • 2
  • Hans Galjaard
    • 1
  • B. A. Oostra
    • 1
  1. 1.MGC Department of Clinical Genetics, Erasmus University, P.O.Box 1738, 3000 DR Rotterdam, The Netherlands Tel.: +31-10-4087198; Fax: +31-10-4087200NL
  2. 2.Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The NetherlandsNL
  3. 3.Department of Medical Statistics, University Hospital Nijmegen, Nijmegen, The NetherlandsNL