Comparative Genomic Hybridization (CGH) - Genetic Mutations

What is Comparative Genomic Hybridization (CGH)?

Comparative Genomic Hybridization (CGH) is a molecular cytogenetic method for analyzing genomic copy number variations (CNVs). It is particularly useful for identifying genetic mutations that result in changes in the number of copies of DNA segments without requiring prior knowledge of specific chromosomal abnormalities.

How Does CGH Work?

In CGH, DNA from a test sample and a reference sample are labeled with different fluorescent dyes, usually green and red. These two DNA samples are then co-hybridized to a normal metaphase chromosome spread or a microarray. Fluorescence microscopy and imaging software are used to measure the intensity of the fluorescence signals. Deviations from the normal ratio of fluorescence intensities indicate areas of copy number variations in the test DNA.

What Types of Genetic Mutations Can CGH Detect?

CGH can detect a variety of genetic alterations including duplications, deletions, and amplifications of DNA segments. This makes it particularly useful for identifying oncogenes and tumor suppressor genes that may contribute to cancer development.

What Are the Advantages of Using CGH?

One of the primary advantages of CGH is its ability to detect genetic mutations across the entire genome without prior knowledge of specific target regions. This contrasts with techniques like fluorescence in situ hybridization (FISH), which requires a pre-defined target. CGH is also highly sensitive and can identify submicroscopic aberrations that are not visible using conventional karyotyping.

What Are the Limitations of CGH?

Despite its many advantages, CGH has some limitations. For instance, it cannot detect balanced rearrangements such as translocations and inversions. Furthermore, the resolution of CGH depends on the platform used; while array-CGH offers higher resolution, it may still miss very small mutations or low-level mosaicism.

Applications of CGH in Medical Research and Diagnostics

CGH has a wide range of applications in both medical research and clinical diagnostics. In cancer research, it is used to identify genetic mutations associated with tumorigenesis. In clinical diagnostics, CGH helps in the diagnosis of various genetic disorders, including developmental disorders and congenital anomalies. It is also used in prenatal diagnostics to detect chromosomal abnormalities in fetuses.

Future Directions and Innovations

Advancements in technology are continually improving the capabilities of CGH. Emerging techniques like next-generation sequencing (NGS) are being integrated with CGH to provide even more detailed genomic information. These innovations promise to enhance our understanding of genetic mutations and their role in disease, potentially leading to more targeted and effective therapies.

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