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Updated: Jul 17, 2026
A Noninvasive Hair Sampling Technique to Obtain High Quality DNA from Elusive Small Mammals
Published on: March 13, 2011
Noninvasive test for fragile X syndrome, using hair root analysis
R Willemsen1, B Anar, Y De Diego Otero
1MGC Department of Clinical Genetics and Centre for Biomedical Genetics, Erasmus University Rotterdam, Rotterdam, The Netherlands.
A new antibody test detects fragile X syndrome by identifying the absence of FMR1 gene product (FMRP) in hair roots. This rapid, minimally invasive method offers a novel diagnostic approach for fragile X syndrome.
Area of Science:
- Genetics
- Molecular Biology
- Neurology
Background:
- Fragile X syndrome is caused by FMR1 gene repeat amplification.
- Current diagnostics include DNA-based methods like Southern blot and PCR.
- A previous immunocytochemical test used blood smears to detect FMRP absence.
Purpose of the Study:
- To develop and evaluate a novel diagnostic test for fragile X syndrome using hair roots.
- To assess the feasibility of using FMRP expression in hair roots for diagnosis.
Main Methods:
- An FMRP-specific antibody test was applied to hair roots.
- FMRP expression was quantified in hair roots from controls and fragile X patients.
- Hair samples were collected via plucking.
Main Results:
- Control individuals showed high FMRP expression in hair roots.
- Male fragile X patients exhibited near-complete absence of FMRP in hair roots.
- Female patients with full mutations showed reduced FMRP expression (<55%), distinct from controls.
Conclusions:
- FMRP absence in hair roots is a reliable indicator of fragile X syndrome.
- This hair root antibody test is a rapid, minimally invasive, and practical diagnostic tool.
- The test identified fragile X patients missed by conventional DNA analysis.
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