Intragenic probe used for diagnostics in fragile X families
Abstract
The intragenic (FMR‐1) probe pE5.1 was used for DNA analysis in fragile X families. With this probe fragments of altered size can be detected in female carriers, affected individuals and transmitting males. the length of the altered fragments was found to vary from one generation to another as well as between sibs. This instability of the DNA detected by pE5.1 was also seen in peripheral blood within single individuals. These phenomena are illustrated by 4 exemplary families segregating the fragile X syndrome. We demonstrate the diagnostic contribution of intragenic analysis to carrier detection as well as the identification of normal transmitting males carrying premutations. One of the families illustrates the passage of a premutation to a male through 2 generations.
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Cytogenetic diagnosis of fragile X syndrome has been replaced by molecular analysis of FMR1 DNA using Southern blot and PCR.
“Cytogenetic methods (6) used in the past to diagnose FXS have been replaced by molecular diagnostic of FMR1 DNA using Southern blot analysis and, more recently, PCR.”
From Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics (2012) · cites this paper as [6]
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- Authors
- Verkerk, A. J. M. H., De Vries, B. B. A., Niermeijer, M. F., Fu, Y., Nelson, D. L., Warren, S. T., Majoor‐Krakauer, D. F., Halley, D. J. J., & Oostra, B. A.
- Affiliations
- Academisch Ziekenhuis Rotterdam (NL)
- Baylor College of Medicine (US)
- Howard Hughes Medical Institute (US)
- Erasmus University Rotterdam (NL)
- Corresponding author
- Oostra, Ben A.
- ORCID
- Venue
- American Journal of Medical Genetics
- Publisher
- Wiley
- Published
- 1992-04-15
- Volume
- 43
- Issue
- 1-2
- Pages
- 192-196
- ISSN
- 0148-7299 (ISSN-L)
- 1096-8628
- OpenAlex
- W2155364743
- Cited by
- 17
- References
- 13
- Citations by year
- 2025: 1 · 2013: 1 · 2012: 1
- FWCI
- 1.31
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal of Medical Genetics (publishedVersion)
- PubMed (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- Funders
- Howard Hughes Medical Institute
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Keywords
- fragile X syndrome, FMR1 gene, premutation, carrier detection, DNA instability, FMR1 repeat expansion
- MeSH terms
- DNA, DNA Mutational Analysis, Female, Fragile X Syndrome, Genetic Carrier Screening, Humans, Male, Pedigree, Repetitive Sequences, Nucleic Acid, DNA Probes, Gene Expression
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