ArticleGenetics in medicine : official journal of the American College of Medical Genetics2016
Identification of microsatellite markers <1 Mb from the FMR1 CGG repeat and development of a single-tube tetradecaplex PCR panel of highly polymorphic markers for preimplantation genetic diagnosis of fragile X syndrome.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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7 citing papers in PubMed, 11 citations in OpenAlex.
- A Strategy Potentially Suitable for Combined Preimplantation Genetic Testing of Aneuploidy and Monogenic Disease That Permits Direct Detection of Pathogenic Variants Including Repeat Expansions and Gene Deletions.International journal of molecular sciences · 2025Article
- Clinical application of polar body-based preimplantation genetic testing for maternal mutations in women with a limited number of oocytes.Orphanet journal of rare diseases · 2025Article
- Review
- Are ovarian response and pregnancy rates similar in selected FMR1 premutated and mutated patients undergoing preimplantation genetic testing?Journal of assisted reproduction and genetics · 2020Article
- Assessment of efficacy of prenatal genetic diagnosis for fragile X syndrome using nested PCR.Experimental and therapeutic medicine · 2018Article
- Impaired GABA Neural Circuits Are Critical for Fragile X Syndrome.Neural plasticity · 2018Review
- FMR1 CGG repeat expansion mutation detection and linked haplotype analysis for reliable and accurate preimplantation genetic diagnosis of fragile X syndrome.Expert reviews in molecular medicine · 2017Review
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Authors and funding
4 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
purposeTo develop a single-tube polymerase chain reaction (PCR) panel of highly polymorphic markers for preimplantation genetic diagnosis (PGD) of fragile X syndrome (FXS).
methodsAn in silico search was performed to identify all markers within 1 Mb flanking the FMR1 gene. Selected markers were optimized into a single-tube PCR panel and their polymorphism indices were determined from 272 female samples from three populations. The single-tube assay was also validated on 30 single cells to evaluate its applicability to FXS PGD.
resultsThirteen markers with potentially high polymorphism information content (PIC) and heterozygosity values were selected and optimized into a single-tube PCR panel together with AMELX/Y for gender determination. Analysis of 272 female samples confirmed the high polymorphism (PIC > 0.5) of most markers, with expected and observed heterozygosities ranging from 0.31 to 0.87. More than 99% of individuals were heterozygous for at least three markers, with 95.8% of individuals heterozygous for at least two markers on either side of the FMR1 CGG repeat.
conclusionThe tetradecaplex marker assay can be performed directly on single cells or after whole-genome amplification, thus supporting its use in FXS PGD either as a standalone linkage-based assay or as a complement to FMR1 mutation detection.Genet Med 18 9, 869-875.
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