Array comparative genomic hybridization

Definition

Array comparative genomic hybridization (aCGH) is a genomic technology used to detect and quantify structural variations in DNA, particularly copy number variations (CNVs). This method involves comparing the test DNA to a reference DNA on a microarray platform, allowing researchers to identify gains or losses of genetic material across the genome. aCGH plays a critical role in understanding the genetic basis of diseases, particularly in cancer and developmental disorders, by revealing alterations that contribute to disease phenotypes.

5 Must Know Facts For Your Next Test

1. aCGH provides high-resolution analysis of the genome, enabling the detection of submicroscopic CNVs that may not be identified by traditional karyotyping.
2. The method relies on competitive hybridization, where labeled test DNA is mixed with labeled reference DNA and hybridized to a microarray containing probes for specific genomic regions.
3. aCGH can be utilized for various applications, including cancer diagnosis, prenatal testing, and identifying genetic disorders by revealing chromosomal imbalances.
4. This technology is particularly valuable in oncology for detecting tumor-specific CNVs that can influence prognosis and treatment decisions.
5. Data generated from aCGH experiments can be analyzed using bioinformatics tools to interpret complex genomic changes and integrate them with clinical outcomes.

Review Questions

• How does array comparative genomic hybridization enhance our understanding of structural variations in the genome?
  • Array comparative genomic hybridization enhances our understanding of structural variations by providing a detailed view of copy number changes across the entire genome. By comparing test and reference DNA, researchers can identify specific regions where genetic material has been gained or lost. This insight is crucial in uncovering the genetic underpinnings of diseases, such as cancers or genetic disorders, allowing for better diagnosis and potential treatment strategies.
• Discuss the role of array comparative genomic hybridization in identifying copy number variations (CNVs) associated with specific diseases.
  • Array comparative genomic hybridization plays a significant role in identifying copy number variations (CNVs) by detecting alterations in DNA segments that may correlate with disease phenotypes. Through its high-resolution capabilities, aCGH can pinpoint submicroscopic CNVs that are often linked to conditions like autism, schizophrenia, and various cancers. Understanding these CNVs helps researchers correlate genetic changes with clinical features and improve personalized medicine approaches.
• Evaluate how advancements in array comparative genomic hybridization technology could impact future genomic research and clinical practices.
  • Advancements in array comparative genomic hybridization technology could significantly impact future genomic research and clinical practices by increasing resolution and decreasing costs. Enhanced methods may lead to faster detection of CNVs with improved accuracy, ultimately facilitating early diagnosis and targeted therapies. Furthermore, integrating aCGH data with other omics technologies could provide comprehensive insights into complex diseases, leading to personalized treatment plans that consider individual genetic variations and their implications on health outcomes.

Related terms

Microarray: A technology that allows for the simultaneous analysis of thousands of DNA sequences on a small chip, used in various applications including gene expression profiling and SNP analysis.

Copy Number Variation (CNV): A type of structural variation where sections of the genome are repeated or deleted, leading to differences in the number of copies of a particular DNA segment among individuals.

Fluorescence In Situ Hybridization (FISH): A technique that uses fluorescent probes to bind to specific DNA sequences on chromosomes, allowing for the visualization of chromosomal abnormalities and gene mapping.