Related Experiment Video
Updated: Jul 3, 2026
09:16
Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
Copy-number variations associated with autism spectrum disorder
Hiroaki Kakinuma1, Hitoshi Sato
1Department of Pediatrics, Kanazawa Medical University, 1-1 Uchinada, Kahoku-gun, Ishikawa 920-293, Japan. p-kaki@kanazawa-med.ac.jp
Pharmacogenomics
|August 7, 2008
Summary
Autism spectrum disorder (ASD) has a significant genetic basis, with copy-number variations identified in affected individuals. Further research into these genetic variations aims to uncover causes and understand the genetics of ASD.
Area of Science:
- Genetics
- Neurodevelopmental Disorders
- Bioinformatics
Background:
- Autism spectrum disorder (ASD) is a complex developmental condition with a known genetic influence.
- Approximately 10% of ASD cases are linked to rare genetic disorders and chromosomal abnormalities.
- The genetic underpinnings of the majority of ASD cases remain largely unknown.
Purpose of the Study:
- To investigate copy-number variations (CNVs) associated with ASD.
- To identify genes that may cause or contribute to the development of ASD.
- To enhance the understanding of the genetic architecture of autism spectrum disorder.
Main Methods:
- Utilizing advanced array-based technologies for high-resolution detection of submicroscopic deletions and duplications.
- Analyzing copy-number variations in individuals diagnosed with ASD compared to unaffected individuals.
- Investigating ASD-associated CNVs for their presence and significance.
Main Results:
- Recent technological advancements enable precise identification of copy-number variations.
- ASD-associated CNVs are being extensively investigated as potential etiological factors.
- These variations offer insights into the genetic landscape of autism.
Conclusions:
- Copy-number variations represent a significant area of research in understanding ASD etiology.
- The study of CNVs contributes to the ongoing search for causative and contributing genes in ASD.
- Further genetic analysis is crucial for unraveling the complexities of autism spectrum disorder.
Related Concept Videos
02:26Comparing Copy Number Variations and SNPs
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
01:19Autism Spectrum Disorder
Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
01:05Single Nucleotide Polymorphisms-SNPs
A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
02:46Genome Copying Errors
DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their survival. Therefore, the copying errors are checked and repaired at three levels.
02:30Genomic Imprinting and Inheritance
Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
01:17Karyotyping
Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...