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Related Concept Videos

Genetic Screens02:46

Genetic Screens

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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
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Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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X-linked Traits01:19

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In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
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Related Experiment Video

Updated: Apr 7, 2026

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
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Fragile X Syndrome: Scientific Background and Screening Technologies.

Justine I Lyons1, Gregory R Kerr1, Patricia W Mueller1

  • 1Molecular Risk Assessment Laboratory, Newborn Screening and Molecular Biology Branch, Centers for Disease Control and Prevention, Atlanta, Georgia.

The Journal of Molecular Diagnostics : JMD
|July 12, 2015
PubMed
Summary

Fragile X syndrome, a common inherited cause of intellectual disability, is increasingly screened using novel molecular technologies. This review compares three methods for detecting CGG-repeat expansions in males and females.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Medical Diagnostics

Background:

  • Fragile X syndrome is the most prevalent inherited cause of intellectual disability.
  • Current diagnostic recommendations target symptomatic individuals and specific risk groups.
  • Growing interest in screening stems from improved treatments and ongoing clinical trials.

Purpose of the Study:

  • To review the molecular basis of Fragile X syndrome.
  • To compare three distinct molecular technologies for Fragile X screening.
  • To evaluate these technologies for both male and female populations.

Main Methods:

  • Method 1: Betaine-assisted destabilization of CGG repeats with chimeric PCR primers.
  • Method 2: Heat-pulse PCR to destabilize C-G bonds for repeat analysis.
  • Method 3: Melting curve analysis for differentiating normal and expanded CGG repeats.

Main Results:

  • The betaine/chimeric primer method demonstrated high sensitivity and specificity.
  • The heat-pulse method yielded agarose gel images for identifying expanded repeats, though female bands can be faint.
  • Melting curve analysis requires controls to ensure accuracy due to shifting cutoff values.

Conclusions:

  • Multiple molecular technologies show promise for Fragile X screening.
  • Each method presents unique advantages and considerations for clinical application.
  • Further validation and optimization are essential for widespread implementation.