Copy number variation (CNV)

Definition

Copy number variation (CNV) refers to the presence of a variable number of copies of a particular gene or genomic region in the DNA of an individual. These variations can involve deletions, duplications, or insertions of segments of DNA and are significant in understanding genetic diversity and disease susceptibility. CNVs can influence gene expression levels and are associated with various phenotypic traits and disorders.

5 Must Know Facts For Your Next Test

1. CNVs can vary in size from a few hundred base pairs to several megabases, affecting one or multiple genes.
2. Studies have shown that CNVs play a role in various diseases, including autism, schizophrenia, and cancer, highlighting their importance in medical genetics.
3. The identification of CNVs has been greatly enhanced by advances in high-throughput sequencing technologies and array comparative genomic hybridization.
4. CNVs contribute to phenotypic diversity among individuals, influencing traits such as height, weight, and susceptibility to diseases.
5. Populations exhibit different frequencies of CNVs, reflecting their evolutionary history and genetic diversity.

Review Questions

• How do copy number variations (CNVs) contribute to genetic diversity among individuals?
  • Copy number variations (CNVs) contribute to genetic diversity by creating differences in the number of gene copies present in individuals. These variations can lead to differences in gene dosage and expression levels, influencing phenotypic traits. By allowing for variations in the genome, CNVs create a spectrum of genetic diversity that can affect everything from physical characteristics to susceptibility to diseases.
• Discuss the significance of identifying CNVs in relation to understanding complex diseases.
  • Identifying CNVs is crucial for understanding complex diseases because these variations can directly impact gene function and regulation. For instance, certain CNVs have been linked to increased risks for conditions such as autism and cancer. By studying these relationships, researchers can gain insights into the genetic underpinnings of diseases and develop targeted therapies or interventions based on specific CNV profiles.
• Evaluate the implications of CNVs on personalized medicine and treatment strategies.
  • The implications of copy number variations (CNVs) on personalized medicine are significant as they can inform treatment strategies tailored to an individual's genetic makeup. Understanding a patient's CNV profile can help predict their response to specific medications, as some may metabolize drugs differently based on their gene dosage. This personalized approach not only enhances treatment efficacy but also minimizes potential side effects, leading to improved patient outcomes.

Related terms

Single Nucleotide Polymorphism (SNP): A single base pair alteration in the DNA sequence that occurs at a specific position in the genome, often used as a marker for genetic variation.

Genomic Imbalance: A condition where there is an abnormality in the number of copies of genomic regions, leading to potential developmental and health issues.

Structural Variation: Larger-scale variations in the genome, including deletions, duplications, inversions, and translocations, which can affect gene function and contribute to genetic diversity.