ArticleGenetics in medicine : official journal of the American College of Medical Genetics2011
High-resolution methylation polymerase chain reaction for fragile X analysis: evidence for novel FMR1 methylation patterns undetected in Southern blot analyses.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers, 1 of them a synthesis that pooled it.
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Who cites it
50 citing papers in PubMed, 1 synthesis or guideline pooled it.
- ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics.Genetics in medicine : official journal of the American College of Medical Genetics · 2013Guideline
- Enhanced accuracy and sensitivity in detecting FMR1 CGG repeats: a multicenter evaluation of a novel PCR-capillary electrophoresis assay.World journal of pediatrics : WJP · 2025Article
- Evolution of genome-wide methylation profiling technologies.Genome research · 2025Review
- Prosodic Differences in Women with theInternational journal of molecular sciences · 2025Article
- Somatic Instability Leading to Mosaicism in Fragile X Syndrome and Associated Disorders: Complex Mechanisms, Diagnostics, and Clinical Relevance.International journal of molecular sciences · 2024Review
- Proteomics insights into fragile X syndrome: Unraveling molecular mechanisms and therapeutic avenues.Neurobiology of disease · 2024Review
- Screening for Fragile X Syndrome Among Filipino Children with Autism Spectrum Disorder.Journal of autism and developmental disorders · 2023Article
- Atypical vocal quality in women with the FMR1 premutation: an indicator of impaired sensorimotor control.Experimental brain research · 2023Article
- Article
- Narrative Review: Update on the Molecular Diagnosis of Fragile X Syndrome.International journal of molecular sciences · 2023Review
- Review
- Neurodevelopment and early pharmacological interventions in Fragile X Syndrome.Frontiers in neuroscience · 2023Review
- Digital gait markers to potentially distinguish fragile X-associated tremor/ataxia syndrome, Parkinson's disease, and essential tremor.Frontiers in neurology · 2023Article
- Feasibility and Reliability Assessment of Video-Based Motion Analysis and Surface Electromyography in Children with Fragile X during Gait.Sensors (Basel, Switzerland) · 2021Article
- Article
- Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- The Effects of Dual Task Cognitive Interference and Fast-Paced Walking on Gait, Turns, and Falls in Men and Women with FXTAS.Cerebellum (London, England) · 2021Article
- The Aging Brain Cohort (ABC) repository: The University of South Carolina's multimodal lifespan database for studying the relationship between the brain, cognition, genetics and behavior in healthy aging.Neuroimage. Reports · 2021Article
- Detection of genetic variation and base modifications at base-pair resolution on both DNA and RNA.Communications biology · 2021Article
- Bisulfite Treatment of CG-Rich Track of Trinucleotide Repeat Expansion Disorder: Make the Sequence Less CG Rich.Advanced biomedical research · 2021Article
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Authors and funding
9 authors.
Funding
Abstract
purposeFragile X syndrome is associated with the expansion of CGG trinucleotide repeats and subsequent methylation of the FMR1 gene. Molecular diagnosis of fragile X currently requires Southern blot analysis to assess methylation. This study describes the evaluation of a polymerase chain reaction-only workflow for the determination of methylation status across a broad range of FMR1 genotypes in male and female specimens.
methodsWe evaluated a novel method that combines allele-specific methylation polymerase chain reaction and capillary electrophoresis with eight cell line and 80 clinical samples, including 39 full mutations. Methylation status was determined using a three-step workflow: (1) differential treatment of genomic DNA using a methylation-sensitive restriction enzyme; (2) polymerase chain reaction with two sets of dye-tagged primers; and (3) amplicon sizing by capillary electrophoresis. All samples were analyzed by both methylation polymerase chain reaction and Southern blot analysis.
resultsFMR1 methylation status and CGG repeat sizing were accurately and reproducibly determined in a set of methylation controls and genomic DNA samples representing a spectrum of CGG repeat lengths and methylation states. Moreover, methylation polymerase chain reaction revealed allele-specific methylation patterns in premutation alleles that were unobtainable using Southern blot analysis.
conclusionsMethylation polymerase chain reaction enabled high throughput, high resolution, and semiquantitative methylation assessments of FMR1 alleles, as well as determinations of CGG repeat length. Results for all samples were concordant with corresponding Southern blot analyses. As a result, this study presents a polymerase chain reaction-based method for comprehensive FMR1 analysis. In addition, the identification of novel methylation mosaic patterns revealed after polymerase chain reaction and capillary electrophoresis may be relevant to several FMR1 disorders.
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