Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Video

Updated: Jul 8, 2026

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

Consensus characterization of 16 FMR1 reference materials: a consortium study.

Jean Amos Wilson1, Victoria M Pratt, Amit Phansalkar

  • 1Sequenom, San Diego, California, USA.

The Journal of Molecular Diagnostics : JMD
|January 1, 2008
PubMed
Summary

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Enrichment of mutated DNA enables ultra-sensitive ctDNA detection in NSCLC using shallow targeted sequencing.

Scientific reports·2026
Same author

Performance Evaluation of a PCR/Nanopore Assay for Carrier Screening for Cystic Fibrosis, Spinal Muscular Atrophy, and Fragile X Syndrome.

The Journal of molecular diagnostics : JMD·2026
Same author

Artificial Intelligence Algorithm Supporting the Diagnosis of Developmental Dysplasia of the Hip: Automated Ultrasound Image Segmentation.

Journal of clinical medicine·2025
Same author

From Expert Knowledge to Validation Resources: A Case for Using in Silico Approaches to Close the Gap in Available Reference Materials for Common Germline Genetic Tests.

The Journal of molecular diagnostics : JMD·2025
Same author

Gaps in guideline adherence: evaluating HLA-B*57:01 screening for abacavir sensitivity and the implementation of evidence-based HIV care.

Clinical biochemistry·2025
Same author

ACMG SF v3.3 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG).

Genetics in medicine : official journal of the American College of Medical Genetics·2025
This summary is machine-generated.

Characterized DNA reference materials for Fragile X syndrome testing are now available. These materials aid in accurate diagnosis and quality control for the Fragile X mental retardation 1 (FMR1) gene assay.

Area of Science:

  • Genetics
  • Molecular Biology
  • Clinical Diagnostics

Background:

  • Fragile X syndrome, caused by FMR1 gene (CGG)n repeat expansion, leads to intellectual disability.
  • FMR1 premutations are linked to premature ovarian failure and fragile X-associated tremor/ataxia syndrome.
  • FMR1 gene analysis is challenging due to high GC content and PCR limitations.

Purpose of the Study:

  • To address the need for reliable reference materials for FMR1 gene analysis.
  • To develop and validate characterized DNA samples for Fragile X mutation testing.
  • To improve the accuracy and quality control of clinical Fragile X syndrome diagnostics.

Main Methods:

  • Development of characterized DNA samples from 16 cell lines with diverse FMR1 (CGG)n repeat lengths.

More Related Videos

Robust Comparison of Protein Levels Across Tissues and Throughout Development Using Standardized Quantitative Western Blotting
08:13

Robust Comparison of Protein Levels Across Tissues and Throughout Development Using Standardized Quantitative Western Blotting

Published on: April 9, 2019

Related Experiment Videos

Last Updated: Jul 8, 2026

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

Robust Comparison of Protein Levels Across Tissues and Throughout Development Using Standardized Quantitative Western Blotting
08:13

Robust Comparison of Protein Levels Across Tissues and Throughout Development Using Standardized Quantitative Western Blotting

Published on: April 9, 2019

  • Consensus analysis of FMR1 alleles by nine independent clinical laboratories.
  • Characterization of DNA samples representing key phenotypic classes and diagnostic cutoffs.

    • Main Results:

    • Creation of a set of 16 characterized DNA reference materials for FMR1 gene analysis.
    • Consensus data from nine labs validated the repeat lengths and phenotypic associations.
    • Availability of these reference materials through the Coriell Cell Repositories.

    Conclusions:

    • Publicly available, characterized FMR1 reference materials are crucial for accurate Fragile X syndrome testing.
    • These materials will support test development, validation, and routine quality control.
    • Enhanced diagnostic accuracy for Fragile X syndrome and related disorders is anticipated.