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

Rob Willemsen, Arie Smits, Serieta Mohkamsing, Hetty Van Beerendonk, Anton De Haan, Bert De Vries, Ans Van Den Ouweland, Erik Sistermans, Hans Galjaard, Ben A. Oostra*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


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.

Original languageEnglish
Pages (from-to)308-311
Number of pages4
JournalHuman Genetics
Issue number3
Publication statusPublished - Mar 1997

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