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Related Concept Videos

DNA Microarrays02:34

DNA Microarrays

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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FISH - Fluorescent In-situ Hybridization

Fluorescence in situ hybridization, or FISH, was developed in the early 1980s and has quickly become one of the most widely used techniques in cytogenetics. Labeled probes are used to bind complementary DNA or RNA sequences on a chromosome or in a region within a cell. Earlier, the probes could only be obtained by cloning or reverse transcription of a DNA template. Currently, the probe oligonucleotides can be synthesized synthetically. Additionally, with the advancement of optical techniques,...
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Karyotyping

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Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...

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Related Experiment Video

Updated: May 13, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
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Published on: February 21, 2015

Clinical array comparative genomic hybridization: a new paradigm.

Patricia Chan1, Arturo Anguiano, Kerri Hensley

  • 1Senior Scientist Quest Diagnostics Nichols Institute, Department of Cytogenetics, 33608 Ortega Highway San Juan Capistrano, CA 92675, USA +1 949 728 4805 ; +1 949 728 4979 ; Patricia.H.Chan@questdiagnostics.com.

Expert Opinion on Medical Diagnostics
|March 19, 2013
PubMed
Summary
This summary is machine-generated.

This study details the creation of a bacterial artificial chromosome (BAC)-based array comparative genomic hybridization (aCGH) microarray for diagnosing developmental disorders. The new diagnostic tool successfully identified chromosomal abnormalities in 11% of initial clinical cases.

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Area of Science:

  • Genetics
  • Genomic Medicine
  • Molecular Cytogenetics

Background:

  • Array comparative genomic hybridization (aCGH) offers significant clinical utility.
  • Laboratory implementation of aCGH technology presents unique challenges.

Purpose of the Study:

  • To construct a bacterial artificial chromosome (BAC)-based CGH microarray.
  • To target microdeletion and duplication syndromes linked to mental retardation and developmental delay.

Main Methods:

  • Developed a 1360 BAC clone microarray covering all chromosomes at a 650-band resolution.
  • Focused on subtelomeric, pericentromeric regions, and genomic hotspots for constitutional disorders.
  • Utilized fluorescence in situ hybridization (FISH) and end-sequencing to validate BACs, eliminating 24% due to mapping or cross-hybridization issues.

Main Results:

  • The microarray successfully identified chromosomal abnormalities in 11% (54 out of 500) of initial clinical cases.
  • Abnormalities were confirmed using FISH with BACs from aberrant loci or conventional cytogenetics.
  • Demonstrated the effectiveness of BACs through chromosome-specific add-in experiments.

Conclusions:

  • Array CGH is a powerful tool for genetic diagnostics.
  • The developed BAC-based microarray is suitable for implementation in diagnostic testing.
  • Rigorous assessment of arrayed elements is crucial for reliable results.