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Microarrays are high-throughput and relatively inexpensive assays that can be automated to analyze large quantities of data at a time. They are used in genome-wide studies to compare gene or protein expression under two varied conditions, such as healthy and diseased states. Microarrays consist of glass or silica slides on which probe molecules are covalently attached through surface functionalization. Most commonly, the slides are prepared through the chemisorption of silanes to silica...
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Related Experiment Video

Updated: Dec 27, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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Diagnosis at the bedside by gene analysis.

J A Phillips1

  • 1Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN 37232-2578.

Southern Medical Journal
|August 1, 1990
PubMed
Summary

DNA analysis aids disease diagnosis by distinguishing genetic mutations from polymorphisms. Understanding mutation heterogeneity explains clinical variations, enabling targeted gene diagnosis for various disorders.

Area of Science:

  • Molecular Biology
  • Genetics
  • Medical Diagnostics

Background:

  • Distinguishing disease-associated DNA mutations from benign polymorphisms is crucial for accurate genetic diagnosis.
  • Genetic heterogeneity in mutations contributes to observed clinical variations at a molecular level.
  • Understanding these genetic alterations is fundamental for advancing diagnostic applications of DNA analysis.

Purpose of the Study:

  • To elucidate key concepts in understanding the diagnostic applications of DNA analysis.
  • To highlight the importance of differentiating DNA polymorphisms from mutations.
  • To explain the role of mutation heterogeneity in clinical variability.

Main Methods:

  • Review of current gene analysis techniques including restriction enzyme analysis, polymerase chain reaction amplification, allele-specific oligonucleotides, denaturing gradient gels, and DNA sequence analysis.

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  • Focus on the principles underlying DNA analysis for diagnostic purposes.
  • Identification of requisites for gene diagnosis, such as analyzing the involved gene portion or nearby DNA segments.

    • Main Results:

    • Four core ideas are essential for comprehending DNA analysis in diagnostics.
    • The distinction between DNA polymorphisms and disease-causing mutations is a primary consideration.
    • Mutation heterogeneity among patients correlates with molecular-level clinical variations.

    Conclusions:

    • Gene diagnosis, utilizing DNA analysis, is applicable to a wide range of genetic and acquired clinical disorders.
    • Accurate gene diagnosis requires either the specific gene segment or a closely located DNA marker.
    • The interpretation of DNA changes, considering polymorphisms and mutation heterogeneity, is key to effective molecular diagnostics.